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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P01185: Variant p.Cys92Ser

Vasopressin-neurophysin 2-copeptin
Gene: AVP
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Variant information Variant position: help 92
Type of variant: help LP/P [Disclaimer]
Residue change: help From Cysteine (C) to Serine (S) at position 92 (C92S, p.Cys92Ser).
Physico-chemical properties: help Change from medium size and polar (C) to small size and polar (S)
BLOSUM score: help -1
Variant description: help In NDI.


Sequence information Variant position: help 92
Protein sequence length: help 164
Location on the sequence: help ALRCQEENYLPSPCQSGQKA C GSGGRCAAFGVCCNDESCVT
Residue conservation: help 
Human                         ALRCQEENYLPSPCQSGQKACGSGGRCAAFGVCCNDESCVT

Mouse                         ALRCQEENYLPSPCQSGQKPCGSGGRCAAVGICCSDESCVA

Rat                           ALRCQEENYLPSPCQSGQKPCGSGGRCAAAGICCSDESCVA

Pig                           ALRCQEENYLPSPCQSGQKPCGSGGRCAAAGICCNDESCVT

Bovine                        ALRCQEENYLPSPCQSGQKPCGSGGRCAAAGICCNDESCVT
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 32 – 124 Neurophysin 2
Disulfide bond 92 – 104



Literature citations
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; Identification of a novel mutation in the arginine vasopressin-neurophysin II gene in familial central diabetes insipidus.
Bullmann C.; Kotzka J.; Grimm T.; Heppner C.; Jockenhovel F.; Krone W.; Muller-Wieland D.;
Exp. Clin. Endocrinol. Diabetes 110:134-137(2002)
Cited for: VARIANT NDI SER-92;
Disclaimer: 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.