Variant position: 13 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 218 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 MARKKVRPRLIA ELARRVRALREQLNRPRDSQL
Mouse MARKKVRPRLIA ELARRVRALREQRNQPRDSQL
Bovine MARRKVRPRLIA ELARRVRALREQRERPRDSVR
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 – 218 28S ribosomal protein S34, mitochondrial
Biallelic Mutations in MRPS34 Lead to Instability of the Small Mitoribosomal Subunit and Leigh Syndrome.
Lake N.J.; Webb B.D.; Stroud D.A.; Richman T.R.; Ruzzenente B.; Compton A.G.; Mountford H.S.; Pulman J.; Zangarelli C.; Rio M.; Bodaert N.; Assouline Z.; Sherpa M.D.; Schadt E.E.; Houten S.M.; Byrnes J.; McCormick E.M.; Zolkipli-Cunningham Z.; Haude K.; Zhang Z.; Retterer K.; Bai R.; Calvo S.E.; Mootha V.K.; Christodoulou J.; Roetig A.; Filipovska A.; Cristian I.; Falk M.J.; Metodiev M.D.; Thorburn D.R.;
Am. J. Hum. Genet. 101:239-254(2017)
Cited for: FUNCTION; INVOLVEMENT IN COXPD32; VARIANTS COXPD32 LYS-13; 32-GLN--VAL-218 DEL AND 100-VAL--GLN-107 DEL; CHARACTERIZATION OF VARIANTS COXPD32 LYS-13 AND 32-GLN--VAL-218 DEL;
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.