Variant position: 62 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1021 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 PSHLTHSSTFCMRTFGYNTI DVVPTYEHYANSTQPGEPRKV
Mouse PSHLTHGSTLYMRTFGYNTI DVVPAYEHYANSALPGEPRKV
Rat PSHLTHGSTLYLRTFGYNTI DVVPAYEHYANSALPGEPRKV
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
1 – 1021 Solute carrier family 12 member 3
1 – 135 Cytoplasmic
43 – 43 Phosphoserine
49 – 49 Phosphoserine
50 – 50 Phosphothreonine
55 – 55 Phosphothreonine
60 – 60 Phosphothreonine
73 – 73 Phosphoserine
Novel molecular variants of the Na-Cl cotransporter gene are responsible for Gitelman syndrome.
Mastroianni N.; Bettinelli A.; Bianchetti M.; Colussi G.; De Fusco M.; Sereni F.; Ballabio A.; Casari G.;
Am. J. Hum. Genet. 59:1019-1026(1996)
Cited for: VARIANTS GTLMNS ASN-62; ASP-186; TRP-209; LEU-349; SER-439; GLU-478; ASN-486; CYS-496; PRO-542; VAL-588 AND ARG-731;
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.