Variant position: 184 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 242 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 G-GRFYQVPVPLPDRRRRFLA MKWMITECR-DKKHQRTLMPEK
Mouse G-GHFYQVPVPLADRRRRFLA MKWMITECR-ENKPRRTLMP
Rat G-GHFYQVPVPLADRRRRFLA MKWMITECR-ENKPRRMLMP
Bovine G-GHFYQVPVPLAERRRRFLA MKWMITECR-EKKPRRMLMP
Chicken G-GKTYQVPVPLKDNRKRFLA MKWLITECR-ENKHRRTLMP
Xenopus laevis G-GKSYQVPTPLKENRRRFLA MKWLITECR-DNKHRRTLMY
Zebrafish G-GKFYQVPVPLTDNRRRFMA MKWMITECR-TNKQGRTLMY
Caenorhabditis elegans G-GTTYQVPFPIEEPEAEFRA MKMMRDICRVRSKHGETHFK
Drosophila G-GVTYQVPVPITTKRSYFLA MKWLLEAAR--EKERKVSLP
Slime mold G-VKELIYPKYLEPEMGEKLA IKWLKKTVA---KFKGELLI
Baker's yeast GVAKASVIPVPLNKRQRNRIA WNWIVQSAN---QRVSSDFA
Fission yeast F-NKSVEFPMPLKERQRRRIA LQWILGECK---SSSPKRLS
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
38 – 242 28S ribosomal protein S7, mitochondrial
Mutation in mitochondrial ribosomal protein S7 (MRPS7) causes congenital sensorineural deafness, progressive hepatic and renal failure and lactic acidemia.
Menezes M.J.; Guo Y.; Zhang J.; Riley L.G.; Cooper S.T.; Thorburn D.R.; Li J.; Dong D.; Li Z.; Glessner J.; Davis R.L.; Sue C.M.; Alexander S.I.; Arbuckle S.; Kirwan P.; Keating B.J.; Xu X.; Hakonarson H.; Christodoulou J.;
Hum. Mol. Genet. 24:2297-2307(2015)
Cited for: FUNCTION; INVOLVEMENT IN COXPD34; VARIANT COXPD34 VAL-184; CHARACTERIZATION OF VARIANT COXPD34 VAL-184;
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.