Variant position: 417 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 449 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 RRVKVMNEKLQHCMELTDLM RNHLNEKRALRLEWMIVILIT
Mouse RRVKVMNEKLQHCMELTDLM RNHLNEKRALRLEWMIVILIT
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
13 – 449 Required for meiotic nuclear division protein 1 homolog
209 – 449 Missing. In isoform 3.
RMND1 deficiency associated with neonatal lactic acidosis, infantile onset renal failure, deafness, and multiorgan involvement.
Janer A.; van Karnebeek C.D.; Sasarman F.; Antonicka H.; Al Ghamdi M.; Shyr C.; Dunbar M.; Stockler-Ispiroglu S.; Ross C.J.; Vallance H.; Dionne J.; Wasserman W.W.; Shoubridge E.A.;
Eur. J. Hum. Genet. 23:1301-1307(2015)
Cited for: FUNCTION; SUBUNIT; SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANT COXPD11 GLN-417;
An RMND1 Mutation causes encephalopathy associated with multiple oxidative phosphorylation complex deficiencies and a mitochondrial translation defect.
Janer A.; Antonicka H.; Lalonde E.; Nishimura T.; Sasarman F.; Brown G.K.; Brown R.M.; Majewski J.; Shoubridge E.A.;
Am. J. Hum. Genet. 91:737-743(2012)
Cited for: VARIANT COXPD11 GLN-417; FUNCTION; HOMOPOLYMERIZATION; SUBCELLULAR LOCATION;
Periventricular Calcification, Abnormal Pterins and Dry Thickened Skin: expanding the clinical spectrum of RMND1?
Casey J.P.; Crushell E.; Thompson K.; Twomey E.; He L.; Ennis S.; Philip R.K.; Taylor R.W.; King M.D.; Lynch S.A.;
JIMD Rep. 26:13-19(2016)
Cited for: VARIANT COXPD11 GLN-417;
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