1. Analytes
  2. MRPL44

MRPL44

Analyte Export to PDF
Name:
mitochondrial ribosomal protein L44
Symbol:
MRPL44
Version of Orphanet:
2023-06-22 14:14:43
Synonyms:
39S ribosomal protein L44, mitochondrial
FLJ12701
FLJ13990
XREF(s):
Orphanet
Ensembl
Genatlas
HGNC
OMIM
Reactome
SwissProt
Created:
13 May 2019 - 01:01
Changed:
22 Jun 2023 - 16:14
  • Cardiomyopathy, hereditary (208 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    ABCC9 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACADVL 98.89 0 No comment
    ACE 97.11 0 No comment
    ACTA1 100.00 0 No comment
    ACTC1 100.00 0 No comment
    ACTN2 100.00 0 No comment
    ADD3 100.00 0 No comment
    ADRB2 100.00 0 No comment
    AGXT 100.00 0 No comment
    AGTR1 100.00 0 No comment
    AKAP9 100.00 0 No comment
    ALPK3 98.02 0 No comment
    ANKRD1 100.00 0 No comment
    APOA1 99.97 0 No comment
    B2M 100.00 0 No comment
    BAG3 100.00 0 No comment
    BRAF 96.97 0 No comment
    CACNA1C 100.00 0 No comment
    CACNB2 100.00 0 No comment
    CALM1 100.00 0 No comment
    CALM2 100.00 0 No comment
    CALM3 99.99 0 No comment
    CALR3 100.00 0 No comment
    CASQ2 100.00 0 No comment
    CASZ1 95.56 0 No comment
    CAV3 100.00 0 No comment
    CAVIN4 100.00 0 No comment
    CBL 100.00 0 No comment
    CDH2 97.48 0 No comment
    CHRM2 100.00 0 No comment
    CMYA5 99.99 0 No comment
    CNBP 100.00 0 No comment
    COA5 100.00 0 No comment
    COA6 100.00 0 No comment
    COX10 100.00 0 No comment
    COX15 100.00 0 No comment
    CRYAB 100.00 0 No comment
    CSRP3 100.00 0 No comment
    CTF1 30.96 0 No comment
    CTNNA3 100.00 0 No comment
    DES 100.00 0 No comment
    DLG1 100.00 0 No comment
    DMD 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNM1L 100.00 0 No comment
    DOLK 100.00 0 No comment
    DSC3 98.44 0 No comment
    DSG2 99.61 0 No comment
    DSP 100.00 0 No comment
    DTNA 100.00 0 No comment
    ECRG4 99.32 0 No comment
    ELAC2 99.99 0 No comment
    ELN 100.00 0 No comment
    EMD 99.84 0 No comment
    EYA4 100.00 0 No comment
    FBXO32 100.00 0 No comment
    CFH 100.00 0 No comment
    FHL2 100.00 0 No comment
    FHOD3 100.00 0 No comment
    FKRP 98.68 0 No comment
    FKTN 100.00 0 No comment
    FLNC 100.00 0 No comment
    FLT1 99.53 0 No comment
    FOXD4 100.00 0 No comment
    FXN 89.89 0 No comment
    GAA 100.00 0 No comment
    GATA4 80.69 0 No comment
    GATA5 97.28 0 No comment
    GATA6 81.11 0 No comment
    GATAD1 88.18 0 No comment
    GLA 100.00 0 No comment
    GTPBP3 100.00 0 No comment
    HACD1 95.46 0 No comment
    HADHB 100.00 0 No comment
    HAND1 100.00 0 No comment
    HCN4 92.35 0 No comment
    HIF1A 100.00 0 No comment
    HRAS 100.00 0 No comment
    HSPB6 99.65 0 No comment
    HSPB7 100.00 0 No comment
    ILK 100.00 0 No comment
    INS-IGF2 99.94 0 No comment
    ISL1 100.00 0 No comment
    JPH2 95.10 0 No comment
    JUP 100.00 0 No comment
    KARS1 100.00 0 No comment
    KAT2B 94.80 0 No comment
    KCND2 100.00 0 No comment
    KCNE1 100.00 0 No comment
    KCNH2 94.44 0 No comment
    KCNJ12 100.00 0 No comment
    KCNQ1 91.07 0 No comment
    KIF20A 100.00 0 No comment
    KLF10 100.00 0 No comment
    LAMA2 100.00 0 No comment
    LAMA4 100.00 0 No comment
    LAMP2 100.00 0 No comment
    LDB3 100.00 0 No comment
    LMNA 99.93 0 No comment
    LRRC10 100.00 0 No comment
    MAP2K1 100.00 0 No comment
    MAP2K2 99.98 0 No comment
    MIB1 100.00 0 No comment
    MIB2 99.31 0 No comment
    MRPL3 100.00 0 No comment
    MRPL44 100.00 0 No comment
    MTO1 95.75 0 No comment
    MYBPC3 100.00 0 No comment
    MYH15 100.00 0 No comment
    MYH6 100.00 0 No comment
    MYH7 100.00 0 No comment
    MYH7B 99.96 0 No comment
    MYL2 100.00 0 No comment
    MYL3 100.00 0 No comment
    MYLK2 100.00 0 No comment
    MYO6 100.00 0 No comment
    MYOM1 100.00 0 No comment
    MYOM3 100.00 0 No comment
    MYOZ1 100.00 0 No comment
    MYOZ2 100.00 0 No comment
    MYPN 100.00 0 No comment
    NAA10 96.03 0 No comment
    NCOA6 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFV2 100.00 0 No comment
    NEB 99.99 0 No comment
    NEBL 100.00 0 No comment
    NEXN 100.00 0 No comment
    NKX2-5 100.00 0 No comment
    NPPA 100.00 0 No comment
    NRAP 100.00 0 No comment
    OBSCN 99.26 0 No comment
    OBSL1 98.31 0 No comment
    MED12 100.00 0 No comment
    PDLIM3 100.00 0 No comment
    PKP2 99.87 0 No comment
    PLEC 99.82 0 No comment
    PLEKHM2 99.60 0 No comment
    PLN 100.00 0 No comment
    PPCS 100.00 0 No comment
    PRDM16 100.00 0 No comment
    PRKAG2 95.88 0 No comment
    PRNP 100.00 0 No comment
    PSEN1 100.00 0 No comment
    PSEN2 100.00 0 No comment
    PTEN 98.86 0 No comment
    PTPN11 98.80 0 No comment
    RAF1 100.00 0 No comment
    RANGRF 100.00 0 No comment
    RBM20 99.82 0 No comment
    RIT1 100.00 0 No comment
    RPSA 97.87 0 No comment
    RRAGC 99.99 0 No comment
    RTKN2 100.00 0 No comment
    RYR2 100.00 0 No comment
    S100A1 100.00 0 No comment
    SCN4B 100.00 0 No comment
    SCN5A 100.00 0 No comment
    SDHA 98.02 0 No comment
    SGCB 94.58 0 No comment
    SGCD 100.00 0 No comment
    SGCG 100.00 0 No comment
    SGK1 99.99 0 No comment
    SHOC2 100.00 0 No comment
    SLC12A1 100.00 0 No comment
    SLC22A5 100.00 0 No comment
    SLC25A3 100.00 0 No comment
    SLC25A4 99.09 0 No comment
    SMC1A 100.00 0 No comment
    SNTA1 84.25 0 No comment
    SOD2 100.00 0 No comment
    SOS1 100.00 0 No comment
    SYNE1 100.00 0 No comment
    SYNE2 100.00 0 No comment
    SYNM 92.59 0 No comment
    TAF1A 100.00 0 No comment
    TAX1BP3 100.00 0 No comment
    WWTR1 99.81 0 No comment
    TBX20 100.00 0 No comment
    TBX5 100.00 0 No comment
    TCAP 100.00 0 No comment
    TCF21 100.00 0 No comment
    TGFB3 100.00 0 No comment
    TJP1 99.14 0 No comment
    TK2 95.90 0 No comment
    TMED4 100.00 0 No comment
    TMEM43 100.00 0 No comment
    TMEM87B 99.37 0 No comment
    TMPO 99.87 0 No comment
    TNNI3 100.00 0 No comment
    TNNI3K 100.00 0 No comment
    TNNT2 100.00 0 No comment
    TNNT3 100.00 0 No comment
    TPM1 99.98 0 No comment
    TRIM54 99.66 0 No comment
    TRIM55 100.00 0 No comment
    TRIM63 100.00 0 No comment
    TRPM4 100.00 0 No comment
    TSFM 93.22 0 No comment
    TTN 100.00 0 No comment
    TTR 100.00 0 No comment
    TXNRD2 96.90 0 No comment
    VCL 100.00 0 No comment
    VEGFA 98.73 0 No comment
    YWHAE 98.69 0 No comment
    ZBTB17 100.00 0 No comment
  • mitochondrial disease, nuclear based (343 genes) - VUB
    Gene % of coding sequence sufficiently covered to detect heterozygous mutations Copy number variation Comments
    AARS2 100.00 0 No comment
    ABAT 100.00 0 No comment
    ABCB7 100.00 0 No comment
    ACAD9 100.00 0 No comment
    ACO2 100.00 0 No comment
    ADPRS 99.18 0 No comment
    AFG3L2 95.05 0 No comment
    AGK 100.00 0 No comment
    AIFM1 100.00 0 No comment
    ALDH1B1 100.00 0 No comment
    ANO10 100.00 0 No comment
    APTX 100.00 0 No comment
    ATAD3A 98.67 0 No comment
    ATAD3B 98.52 0 No comment
    ATAD3C 97.28 0 No comment
    ATL1 100.00 0 No comment
    ATL3 100.00 0 No comment
    ATP5F1A 100.00 0 No comment
    ATP5F1B 100.00 0 No comment
    ATP5F1C 100.00 0 No comment
    ATP5F1D 86.59 0 No comment
    ATP5F1E 100.00 0 No comment
    ATP5IF1 100.00 0 No comment
    ATP5MC1 100.00 0 No comment
    ATP5MC2 100.00 0 No comment
    ATP5MC3 100.00 0 No comment
    ATP5MK 100.00 0 No comment
    ATP5ME 100.00 0 No comment
    ATP5MF 100.00 0 No comment
    ATP5MG 100.00 0 No comment
    ATP5MGL 100.00 0 No comment
    ATP5PB 99.84 0 No comment
    ATP5PD 99.81 0 No comment
    ATP5PF 100.00 0 No comment
    ATP5PO 100.00 0 No comment
    ATPAF1 81.57 0 No comment
    ATPAF2 100.00 0 No comment
    BCS1L 100.00 0 No comment
    BOLA1 100.00 0 No comment
    BOLA2 100.00 0 No comment
    BOLA3 84.43 0 No comment
    MTRFR 100.00 0 No comment
    C19ORF12 100.00 0 No comment
    C1QBP 97.23 0 No comment
    CARS2 95.42 0 No comment
    CEP89 100.00 0 No comment
    CHCHD10 97.45 0 No comment
    CHKB 99.69 0 No comment
    CLPB 100.00 0 No comment
    CLPP 100.00 0 No comment
    COA1 100.00 0 No comment
    COA3 100.00 0 No comment
    COA5 100.00 0 No comment
    COA6 100.00 0 No comment
    COA7 100.00 0 No comment
    COA8 100.00 0 No comment
    COASY 100.00 0 No comment
    COQ2 97.15 0 No comment
    COQ4 100.00 0 No comment
    COQ6 100.00 0 No comment
    COQ7 100.00 0 No comment
    COQ8A 100.00 0 No comment
    COQ8B 90.08 0 No comment
    COQ9 99.99 0 No comment
    COX10 100.00 0 No comment
    COX14 100.00 0 No comment
    COX15 100.00 0 No comment
    COX20 98.72 0 No comment
    COX4I1 100.00 0 No comment
    COX4I2 100.00 0 No comment
    COX5A 97.33 0 No comment
    COX5B 100.00 0 No comment
    COX6A1 100.00 0 No comment
    COX6A2 100.00 0 No comment
    COX6B1 100.00 0 No comment
    COX6B2 100.00 0 No comment
    COX6C 100.00 0 No comment
    COX7A1 100.00 0 No comment
    COX7A2 100.00 0 No comment
    COX7A2L 100.00 0 No comment
    COX7B 99.88 0 No comment
    COX7B2 100.00 0 No comment
    COX7C 100.00 0 No comment
    COX8A 100.00 0 No comment
    COX8C 98.71 0 No comment
    CYC1 88.46 0 No comment
    CYCS 100.00 0 No comment
    DARS2 100.00 0 No comment
    DDHD1 98.94 0 No comment
    DES 100.00 0 No comment
    DGUOK 100.00 0 No comment
    DHTKD1 99.98 0 No comment
    DLAT 100.00 0 No comment
    DLD 100.00 0 No comment
    DLST 100.00 0 No comment
    DMAC2L 100.00 0 No comment
    DNA2 100.00 0 No comment
    DNAJC19 100.00 0 No comment
    DNAJC3 100.00 0 No comment
    DNM1L 100.00 0 No comment
    EARS2 100.00 0 No comment
    ECHS1 99.99 0 No comment
    ECSIT 100.00 0 No comment
    ELAC2 99.99 0 No comment
    ETHE1 99.88 0 No comment
    FARS2 100.00 0 No comment
    FASTKD2 100.00 0 No comment
    FBXL4 100.00 0 No comment
    FDX2 100.00 0 No comment
    FDXR 100.00 0 No comment
    FH 100.00 0 No comment
    FOXRED1 100.00 0 No comment
    FXN 89.89 0 No comment
    GARS1 99.53 0 No comment
    GATB 100.00 0 No comment
    GATC 100.00 0 No comment
    GATM 99.26 0 No comment
    GFER 97.55 0 No comment
    GFM1 100.00 0 No comment
    GFM2 100.00 0 No comment
    GLRX5 84.06 0 No comment
    GLUD1 99.45 0 No comment
    GTPBP3 100.00 0 No comment
    HARS2 100.00 0 No comment
    HCCS 100.00 0 No comment
    HIBCH 100.00 0 No comment
    HLCS 100.00 0 No comment
    HSD17B10 100.00 0 No comment
    HSPA9 100.00 0 No comment
    HSPD1 99.53 0 No comment
    HTRA2 100.00 0 No comment
    IARS2 100.00 0 No comment
    IBA57 87.89 0 No comment
    ISCA1 99.77 0 No comment
    ISCA2 100.00 0 No comment
    ISCU 99.39 0 No comment
    KARS1 100.00 0 No comment
    LACTB 91.87 0 No comment
    LARS2 100.00 0 No comment
    LIAS 100.00 0 No comment
    LIPT1 100.00 0 No comment
    LIPT2 94.78 0 No comment
    LONP1 99.83 0 No comment
    LRPPRC 99.14 0 No comment
    LYRM4 68.80 0 No comment
    LYRM7 100.00 0 No comment
    MARS2 100.00 0 No comment
    MCUR1 79.55 0 No comment
    MDH2 98.91 0 No comment
    MFF 100.00 0 No comment
    MFN2 100.00 0 No comment
    MGME1 100.00 0 No comment
    MICOS13 100.00 0 No comment
    MICU1 100.00 0 No comment
    MIEF2 100.00 0 No comment
    MMUT 100.00 0 No comment
    MPC1 100.00 0 No comment
    MPV17 100.00 0 No comment
    MRM2 99.91 0 No comment
    MRM3 100.00 0 No comment
    MRPL12 92.58 0 No comment
    MRPL3 100.00 0 No comment
    MRPL44 100.00 0 No comment
    MRPL57 100.00 0 No comment
    MRPS14 100.00 0 No comment
    MRPS16 100.00 0 No comment
    MRPS2 98.34 0 No comment
    MRPS22 100.00 0 No comment
    MRPS34 97.33 0 No comment
    MRPS7 100.00 0 No comment
    MRRF 100.00 0 No comment
    MSTO1 100.00 0 No comment
    MTFMT 99.11 0 No comment
    MTO1 95.75 0 No comment
    MTPAP 100.00 0 No comment
    NADK2 90.73 0 No comment
    NARS2 100.00 0 No comment
    NAXE 99.78 0 No comment
    NDUFA1 100.00 0 No comment
    NDUFA10 95.87 0 No comment
    NDUFA11 98.06 0 No comment
    NDUFA12 100.00 0 No comment
    NDUFA13 100.00 0 No comment
    NDUFA2 100.00 0 No comment
    NDUFA3 100.00 0 No comment
    NDUFA4 99.68 0 No comment
    NDUFA5 87.27 0 No comment
    NDUFA6 100.00 0 No comment
    NDUFA7 100.00 0 No comment
    NDUFA8 100.00 0 No comment
    NDUFA9 100.00 0 No comment
    NDUFAB1 100.00 0 No comment
    NDUFAF1 100.00 0 No comment
    NDUFAF2 100.00 0 No comment
    NDUFAF3 100.00 0 No comment
    NDUFAF4 100.00 0 No comment
    NDUFAF5 100.00 0 No comment
    NDUFAF6 93.73 0 No comment
    NDUFAF7 100.00 0 No comment
    NDUFB1 100.00 0 No comment
    NDUFB10 100.00 0 No comment
    NDUFB11 99.52 0 No comment
    NDUFB2 100.00 0 No comment
    NDUFB3 100.00 0 No comment
    NDUFB4 99.85 0 No comment
    NDUFB5 100.00 0 No comment
    NDUFB6 100.00 0 No comment
    NDUFB7 100.00 0 No comment
    NDUFB8 100.00 0 No comment
    NDUFB9 100.00 0 No comment
    NDUFC1 100.00 0 No comment
    NDUFC2 100.00 0 No comment
    NDUFS1 100.00 0 No comment
    NDUFS2 100.00 0 No comment
    NDUFS3 100.00 0 No comment
    NDUFS4 100.00 0 No comment
    NDUFS5 99.18 0 No comment
    NDUFS6 100.00 0 No comment
    NDUFS7 99.49 0 No comment
    NDUFS8 100.00 0 No comment
    NDUFV1 100.00 0 No comment
    NDUFV2 100.00 0 No comment
    NDUFV3 99.46 0 No comment
    NFS1 93.58 0 No comment
    NFU1 99.75 0 No comment
    NSUN3 100.00 0 No comment
    NUBPL 100.00 0 No comment
    OGDH 100.00 0 No comment
    MED12 100.00 0 No comment
    OPA3 100.00 0 No comment
    OXA1L 100.00 0 No comment
    PANK2 98.60 0 No comment
    PARS2 100.00 0 No comment
    PODXL 100.00 0 No comment
    PDHA1 98.17 0 No comment
    PDHB 100.00 0 No comment
    PDHX 99.87 0 No comment
    PDK1 99.19 0 No comment
    PDK2 100.00 0 No comment
    PDK3 99.76 0 No comment
    PDK4 100.00 0 No comment
    PDP1 100.00 0 No comment
    PDSS1 86.24 0 No comment
    PDSS2 100.00 0 No comment
    PET100 100.00 0 No comment
    PET117 100.00 0 No comment
    PIGA 100.00 0 No comment
    PINK1 92.83 0 No comment
    PISD 100.00 0 No comment
    PITRM1 100.00 0 No comment
    PMPCA 100.00 0 No comment
    PNPT1 100.00 0 No comment
    POLG 100.00 0 No comment
    POLG2 100.00 0 No comment
    POLR3A 100.00 0 No comment
    PPA2 99.97 0 No comment
    PTRH2 100.00 0 No comment
    PUS1 99.08 0 No comment
    PYCR1 100.00 0 No comment
    PYCR2 100.00 0 No comment
    QRSL1 100.00 0 No comment
    RARS2 100.00 0 No comment
    REEP1 97.37 0 No comment
    RMND1 100.00 0 No comment
    RNASEH1 100.00 0 No comment
    RRM2B 100.00 0 No comment
    SARS2 100.00 0 No comment
    SCO1 100.00 0 No comment
    SCO2 100.00 0 No comment
    SDHA 98.02 0 No comment
    SDHAF1 96.03 0 No comment
    SDHB 100.00 0 No comment
    SDHD 80.22 0 No comment
    SERAC1 100.00 0 No comment
    SFXN4 100.00 0 No comment
    SLC19A2 99.50 0 No comment
    SLC19A3 100.00 0 No comment
    SLC25A1 93.77 0 No comment
    SLC25A12 100.00 0 No comment
    SLC25A13 99.94 0 No comment
    SLC25A19 100.00 0 No comment
    SLC25A22 100.00 0 No comment
    SLC25A24 99.82 0 No comment
    SLC25A3 100.00 0 No comment
    SLC25A32 100.00 0 No comment
    SLC25A4 99.09 0 No comment
    SLC25A46 100.00 0 No comment
    SLC25A5 98.36 0 No comment
    SLC25A6 100.00 0 No comment
    SLC39A8 97.00 0 No comment
    SPART 100.00 0 No comment
    SPAST 100.00 0 No comment
    AFG2A 100.00 0 No comment
    SPG7 96.56 0 No comment
    SQSTM1 93.68 0 No comment
    STXBP1 100.00 0 No comment
    SUCLA2 100.00 0 No comment
    SUCLG1 95.74 0 No comment
    SUCLG2 99.95 0 No comment
    SURF1 87.74 0 No comment
    TACO1 99.90 0 No comment
    TANGO2 100.00 0 No comment
    TARS2 100.00 0 No comment
    WWTR1 99.81 0 No comment
    THG1L 100.00 0 No comment
    TIMM44 99.93 0 No comment
    TIMM50 100.00 0 No comment
    TIMM8A 100.00 0 No comment
    TIMMDC1 100.00 0 No comment
    TK2 95.90 0 No comment
    TMEM126A 100.00 0 No comment
    TMEM126B 100.00 0 No comment
    TMEM70 100.00 0 No comment
    TPK1 100.00 0 No comment
    TRIAP1 100.00 0 No comment
    TRIT1 100.00 0 No comment
    TRMT10C 100.00 0 No comment
    TRMT5 100.00 0 No comment
    TRMU 100.00 0 No comment
    TRNT1 100.00 0 No comment
    TSFM 93.22 0 No comment
    TTC19 85.12 0 No comment
    TUFM 100.00 0 No comment
    TWNK 100.00 0 No comment
    TXN2 100.00 0 No comment
    TYMP 91.72 0 No comment
    UBA52 100.00 0 No comment
    UQCC1 100.00 0 No comment
    UQCC2 100.00 0 No comment
    UQCC3 100.00 0 No comment
    UQCR10 100.00 0 No comment
    UQCR11 100.00 0 No comment
    UQCRB 100.00 0 No comment
    UQCRC1 99.82 0 No comment
    UQCRC2 100.00 0 No comment
    UQCRFS1 98.87 0 No comment
    UQCRH 100.00 0 No comment
    UQCRQ 100.00 0 No comment
    VARS2 100.00 0 No comment
    VPS13D 100.00 0 No comment
    WARS2 100.00 0 No comment
    YARS2 100.00 0 No comment
    YME1L1 100.00 0 No comment