Variant position: 54 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 164 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 SDLELRQCLPCGPGGKGRCF GPSICCADELGCFVGTAEALR
Mouse SDMELRQCLPCGPGGKGRCF GPSICCADELGCFVGTAEALR
Rat SDMELRQCLPCGPGGKGRCF GPSICCADELGCFLGTAEALR
Pig SDLELRQCLPCGPGGKGRCF GPSICCGDELGCFVGTAEALR
Bovine SDLELRQCLPCGPGGKGRCF GPSICCGDELGCFVGTAEALR
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.
Molecular analysis in familial neurohypophyseal diabetes insipidus: early diagnosis of an asymptomatic carrier.
Calvo B.; Bilbao J.R.; Rodriguez A.; Rodriguez-Arnao M.D.; Castano L.;
J. Clin. Endocrinol. Metab. 84:3351-3354(1999)
Cited for: VARIANT NDI ARG-54;
Clinical and molecular analysis of three families with autosomal dominant neurohypophyseal diabetes insipidus associated with a novel and recurrent mutations in the vasopressin-neurophysin II gene.
Rutishauser J.; Kopp P.; Gaskill M.B.; Kotlar T.J.; Robertson G.L.;
Eur. J. Endocrinol. 146:649-656(2002)
Cited for: VARIANTS NDI ARG-54; TYR-92 AND ARG-105;
Six novel mutations in the arginine vasopressin gene in 15 kindreds with autosomal dominant familial neurohypophyseal diabetes insipidus give further insight into the pathogenesis.
Christensen J.H.; Siggaard C.; Corydon T.J.; deSanctis L.; Kovacs L.; Robertson G.L.; Gregersen N.; Rittig S.;
Eur. J. Hum. Genet. 12:44-51(2004)
Cited for: VARIANTS NDI THR-19; VAL-19; ARG-54; ALA-67; GLY-78; GLU-78 DEL; ASP-96; CYS-96; GLY-104 AND TRP-116;
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