Variant position: 126 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 640 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 CTDVDECAEPGLSHCHALAT CVNVVGSYLCVCPAGYRGDGW
Mouse CTDVDECSEQGLSNCHALAT CVNTEGDYLCVCPEGFTGDGW
Rat CIDVNECTEQGLSNCHSLAT CVNTEGSYSCVCPKGYRGDGW
Bovine CEDVDECAEPGLSRCHALAT CINGEGNYSCVCPAGYLGDGR
Dog CIDVDECSEPGLSRCHALAT CINNKGNYSCVCPAGYRGDGQ
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.
A cluster of mutations in the UMOD gene causes familial juvenile hyperuricemic nephropathy with abnormal expression of uromodulin.
Dahan K.; Devuyst O.; Smaers M.; Vertommen D.; Loute G.; Poux J.M.; Viron B.; Jacquot C.; Gagnadoux M.F.; Chauveau D.; Buchler M.; Cochat P.; Cosyns J.P.; Mougenot B.; Rider M.H.; Antignac C.; Verellen-Dumoulin C.; Pirson Y.;
J. Am. Soc. Nephrol. 14:2883-2893(2003)
Cited for: INVOLVEMENT IN HNFJ1; VARIANTS HNFJ1 ALA-59; ARG-112; ARG-126; TYR-170; SER-185; GLY-204; GLY-217; PRO-222; MET-225 AND ARG-282;
UROMODULIN mutations cause familial juvenile hyperuricemic nephropathy.
Turner J.J.O.; Stacey J.M.; Harding B.; Kotanko P.; Lhotta K.; Puig J.G.; Roberts I.; Torres R.J.; Thakker R.V.;
J. Clin. Endocrinol. Metab. 88:1398-1401(2003)
Cited for: VARIANTS HNFJ1 TYR-77; ARG-126; SER-128; TYR-255 AND GLY-300;
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.