Variant position: 388 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 457 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 RDSSMKLSFRARAYGFRGPG PQLRRGWRPSSREDSLEAGLP
Mouse PDRSMKLSFRTRAYGFRDPG PQLRRGWRPSSREDSVEA---
Rat PDRSMKLSFRARAYGFRDPG PQLRRGWRPSSREDSVEA---
Bovine PDRSMRLSFRARGYGFRGPG LQLRRGWRPNSREDSVEAGLP
Horse PDRSMKLSFRARAYGFRGPG LQLRRGWRPSSREDSIEAGLP
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.
Both rare and common polymorphisms contribute functional variation at CHGA, a regulator of catecholamine physiology.
Wen G.; Mahata S.K.; Cadman P.; Mahata M.; Ghosh S.; Mahapatra N.R.; Rao F.; Stridsberg M.; Smith D.W.; Mahboubi P.; Schork N.J.; O'Connor D.T.; Hamilton B.A.;
Am. J. Hum. Genet. 74:197-207(2004)
Cited for: VARIANTS SER-382 AND LEU-388;
The catecholamine release-inhibitory 'catestatin' fragment of chromogranin a: naturally occurring human variants with different potencies for multiple chromaffin cell nicotinic cholinergic responses.
Mahata S.K.; Mahata M.; Wen G.; Wong W.B.; Mahapatra N.R.; Hamilton B.A.; O'Connor D.T.;
Mol. Pharmacol. 66:1180-1191(2004)
Cited for: VARIANTS SER-382; LEU-388 AND GLN-392; CHARACTERIZATION OF VARIANTS SER-382; LEU-388 AND GLN-392; FUNCTION (CATESTATIN);
Proteolytic cleavage of human chromogranin a containing naturally occurring catestatin variants: differential processing at catestatin region by plasmin.
Biswas N.; Vaingankar S.M.; Mahata M.; Das M.; Gayen J.R.; Taupenot L.; Torpey J.W.; O'Connor D.T.; Mahata S.K.;
Cited for: VARIANTS SER-382; LEU-388 AND GLN-392; CHARACTERIZATION OF VARIANTS SER-382; LEU-388 AND GLN-392; PROTEOLYTIC PROCESSING;
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.