Variant position: 261 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 805 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 GLAVGKEGPMIHSGSVIAAG ISQGRSTSLKRDFKIFEYFRR
Mouse GLAVGKEGPMIHSGSVIAAG ISQGRSTSLKRDFKIFEYFRR
Rat GLAVGKEGPMIHSGSVIAAG ISQGRSTSLKRDFKIFEYFRR
Bovine GLAVGKEGPMIHSGSVIAAG ISQGRSTSLKRDFKIFEYFRR
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 – 805 H(+)/Cl(-) exchange transporter 7
247 – 264 Helical
247 – 247 Mediates proton transfer from the outer aqueous phase to the interior of the protein; involved in linking H(+) and Cl(-) transport
DNA-based diagnosis of malignant osteopetrosis by whole-genome scan using a single-nucleotide polymorphism microarray: standardization of molecular investigations of genetic diseases due to consanguinity.
Lam C.-W.; Tong S.-F.; Wong K.; Luo Y.F.; Tang H.-Y.; Ha S.-Y.; Chan M.H.-M.;
J. Hum. Genet. 52:98-101(2007)
Cited for: VARIANT OPTB4 PHE-261;
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.