Variant position: 156 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 809 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 VKRMRQRTALYKKKLVEGD-L SSPEASPQTAKPTAVPPVKES
Mouse VERMRERTALYKKTLTEEENF PEVEASSQTAMSTNISPKQE
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 – 809 Cyclic nucleotide-gated cation channel beta-3
1 – 216 Cytoplasmic
153 – 178 Disordered
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.
Kohl S.; Varsanyi B.; Antunes G.A.; Baumann B.; Hoyng C.B.; Jaegle H.; Rosenberg T.; Kellner U.; Lorenz B.; Salati R.; Jurklies B.; Farkas A.; Andreasson S.; Weleber R.G.; Jacobson S.G.; Rudolph G.; Castellan C.; Dollfus H.; Legius E.; Anastasi M.; Bitoun P.; Lev D.; Sieving P.A.; Munier F.L.; Zrenner E.; Sharpe L.T.; Cremers F.P.M.; Wissinger B.;
Eur. J. Hum. Genet. 13:302-308(2005)
Cited for: VARIANTS ACHM3 PHE-156; LEU-309; PHE-435 AND 720-GLN--LYS-726 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.