Variant position: 48 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 GGKRAMSDLELRQCLPCGPG GKGRCFGPSICCADELGCFVG
Mouse GGKRAISDMELRQCLPCGPG GKGRCFGPSICCADELGCFVG
Rat GGKRATSDMELRQCLPCGPG GKGRCFGPSICCADELGCFLG
Pig GGKRAMSDLELRQCLPCGPG GKGRCFGPSICCGDELGCFVG
Bovine GGKRAMSDLELRQCLPCGPG GKGRCFGPSICCGDELGCFVG
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
28 – 28 Important for agonist activity on V1aR/AVPR1A
28 – 28 Glycine amide
41 – 85
44 – 58
28 – 28 G -> V. Gain of antagonist activity on V1aR/AVPR1A (and loss of agonist activity on this receptor). 42-fold decrease in affinity for V1aR/AVPR1A, 2000-fold decrease in affinity for V1bR/AVPR1B, 5-fold decrease in affinity for V2R/AVPR2 and no change in affinity for oxytocin receptor (OXTR).
A missense mutation in the vasopressin-neurophysin precursor gene cosegregates with human autosomal dominant neurohypophyseal diabetes insipidus.
Bahnsen U.; Oosting P.; Swaab D.F.; Nahke P.; Richter D.; Schmale H.;
EMBO J. 11:19-23(1992)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANT NDI VAL-48;
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