Variant position: 131 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 411 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 LNSLAISVMNQWPGVKLRVT EGWDEDGHHSEESLHYEGRAV
Mouse LNSLAISVMNQWPGVKLRVT EGWDEDGHHSEESLHYEGRAV
Chicken LNSLAISVMNQWPGVKLRVT EGWDEDGHHSEESLHYEGRAV
Xenopus laevis LNSLAISVMNQWPGVKLRVT EGWDEDGHHFEESLHYEGRAV
Zebrafish LNSLAISVMNLWPGVRLRVT EGWDEDGLHSEESLHYEGRAV
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.
Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
Ma G.; Yu J.; Xiao Y.; Chan D.; Gao B.; Hu J.; He Y.; Guo S.; Zhou J.; Zhang L.; Gao L.; Zhang W.; Kang Y.; Cheah K.S.; Feng G.; Guo X.; Wang Y.; Zhou C.Z.; He L.;
Cell Res. 21:1343-1357(2011)
Cited for: X-RAY CRYSTALLOGRAPHY (1.44 ANGSTROMS) OF 28-202 OF WILD TYPE AND VARIANTS BDA1 LYS-95; GLU-100 AND LYS-131 IN COMPLEX WITH ZINC IONS; FUNCTION; SUBUNIT; INTERACTION WITH PTCH1; SUBCELLULAR LOCATION; CHOLESTERYLATION; PALMITOYLATION; MUTAGENESIS OF GLU-95; DOMAIN; CHARACTERIZATION OF VARIANTS BDA1 LYS-95; ASN-100; GLU-100 AND LYS-131;
Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1.
Gao B.; Guo J.; She C.; Shu A.; Yang M.; Tan Z.; Yang X.; Guo S.; Feng G.; He L.;
Nat. Genet. 28:386-388(2001)
Cited for: VARIANTS BDA1 LYS-95; GLU-100 AND LYS-131;
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.