Variant position: 342 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 757 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 PNEKDNCPLVRNPDQRNTDE DKWGDACDNCRSQKNDDQKDT
Mouse PNEQDNCPLVRNPDQRNSDS DKWGDACDNCRSKKNDDQKDT
Rat PNEQDNCPLVRNPDQRNSDK DKWGDACDNCRSQKNDDQKDT
Bovine LNEKDNCPLVRNPDQRNTDG DKWGDACDNCRSQKNDDQKDT
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.
Pseudoachondroplasia and multiple epiphyseal dysplasia due to mutations in the cartilage oligomeric matrix protein gene.
Briggs M.D.; Hoffman S.M.G.; King L.M.; Olsen A.S.; Mohrenweiser H.; Leroy J.G.; Mortier G.R.; Rimoin D.L.; Lachman R.S.; Gaines E.S.; Cekleniak J.A.; Knowlton R.G.; Cohn D.H.;
Nat. Genet. 10:330-336(1995)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA] OF 326-344; VARIANT EDM1 TYR-342; VARIANT PSACH ARG-328;
Identification of five novel mutations in cartilage oligomeric matrix protein gene in pseudoachondroplasia and multiple epiphyseal dysplasia.
Loughlin J.; Irven C.; Mustafa Z.; Briggs M.D.; Carr A.; Lynch S.-A.; Knowlton R.G.; Cohn D.H.; Sykes B.;
Hum. Mutat. Suppl. 1:S10-S17(1998)
Cited for: VARIANTS PSACH ARG-328; ASP-372 DEL; 391-PRO--ASP-394 DELINS VAL; ARG-440; SER-459 DEL; TYR-468; ASP-469 DEL AND TYR-472; VARIANTS EDM1 TYR-342; TYR-361; 367-ARG-GLY-368 DEL AND TYR-408;
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.