Variant position: 114 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 296 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human KAGCRHRFMEPYIFGSRLDH DIIDLEQTATHLQLALNFTAH
Mouse KAGCRHRFMEPYIFGNRLGQ DIIDLDQTALNLQLALNFTAH
Bovine KAGCRHRFMEPYIFGSRLGQ DIIDLEQTATHLQLALNFTAH
Slime mold SAWKWNPTLKSFIYKEISQI HIIRIPAFLLIIGKVLNLIRE
Baker's yeast ---INARILRDNFKRQQFKE NEILVKS--------------
Fission yeast ---LKHKAFRDLLCRRLFAE HEVERQS--------------
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 296 28S ribosomal protein S2, mitochondrial
Bi-allelic mutations in the mitochondrial ribosomal protein MRPS2 cause sensorineural hearing loss, hypoglycemia, and multiple OXPHOS complex deficiencies.
Gardeitchik T.; Mohamed M.; Ruzzenente B.; Karall D.; Guerrero-Castillo S.; Dalloyaux D.; van den Brand M.; van Kraaij S.; van Asbeck E.; Assouline Z.; Rio M.; de Lonlay P.; Scholl-Buergi S.; Wolthuis D.F.G.J.; Hoischen A.; Rodenburg R.J.; Sperl W.; Urban Z.; Brandt U.; Mayr J.A.; Wong S.; de Brouwer A.P.M.; Nijtmans L.; Munnich A.; Roetig A.; Wevers R.A.; Metodiev M.D.; Morava E.;
Am. J. Hum. Genet. 102:685-695(2018)
Cited for: FUNCTION; INVOLVEMENT IN COXPD36; VARIANTS COXPD36 CYS-110; ASN-114 AND HIS-138; CHARACTERIZATION OF VARIANTS COXPD36 CYS-110; ASN-114 AND HIS-138;
Any medical or genetic information present in this entry is provided for research, educational and informational purposes only. They are not in any way intended to be used as a substitute for professional medical advice, diagnostic, treatment or care.