Variant position: 1423 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4307 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 TILDQLQRCQKSLNEFLEEK RSAFPRFYFIGDDDLLEILGQ
Mouse TILDQLQRCQKSLNEFLEEK RSAFPRFYFIGDDDLLEILGQ
Rat TILDQLQRCQKSLNEFLEEK RSAFPRFYFIGDDDLLEILGQ
Caenorhabditis elegans QIVDQLNRCQKALNQFLEQK RTAFPRFYFIGDDDLLEILGQ
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.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
El Hokayem J.; Huber C.; Couve A.; Aziza J.; Baujat G.; Bouvier R.; Cavalcanti D.P.; Collins F.A.; Cordier M.P.; Delezoide A.L.; Gonzales M.; Johnson D.; Le Merrer M.; Levy-Mozziconacci A.; Loget P.; Martin-Coignard D.; Martinovic J.; Mortier G.R.; Perez M.J.; Roume J.; Scarano G.; Munnich A.; Cormier-Daire V.;
J. Med. Genet. 49:227-233(2012)
Cited for: VARIANTS SRTD3 CYS-330; GLY-338; CYS-430; ARG-495; CYS-1423; SER-2496 AND GLN-2662;
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.