Variant position: 78 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 CCADELGCFVGTAEALRCQE ENYLPSPCQSGQKACGSGGRC
Mouse CCADELGCFVGTAEALRCQE ENYLPSPCQSGQKPCGSGGRC
Rat CCADELGCFLGTAEALRCQE ENYLPSPCQSGQKPCGSGGRC
Pig CCGDELGCFVGTAEALRCQE ENYLPSPCQSGQKPCGSGGRC
Bovine CCGDELGCFVGTAEALRCQE ENYLPSPCQSGQKPCGSGGRC
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
32 – 124 Neurophysin 2
41 – 85
Identification of 13 new mutations in the vasopressin-neurophysin II gene in 17 kindreds with familial autosomal dominant neurohypophyseal diabetes insipidus.
Rittig S.; Robertson G.L.; Siggaard C.; Kovacs L.; Gregersen N.; Nyborg J.; Pedersen E.B.;
Am. J. Hum. Genet. 58:107-117(1996)
Cited for: VARIANTS NDI PHE-17; THR-19; VAL-19; ARG-45; CYS-51; GLY-78; PRO-81; ARG-88; SER-88; SER-92 AND CYS-96;
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;
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.