UniProtKB/Swiss-Prot P55017: Variant p.Ala264Gly

Solute carrier family 12 member 3
Gene: SLC12A3
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Variant information Variant position:

264 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Alanine (A) to Glycine (G) at position 264 (A264G, p.Ala264Gly). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from small size and hydrophobic (A) to glycine (G) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Other resources:

Links to websites of interest for the variant.

Variant rs1529927 [ dbSNP | Ensembl ]

Sequence information Variant position:

264 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:

DLLQEYGAPIVDPINDIRII A VVSVTVLLAISLAGMEWESK 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                         DLLQEYGAPIVDPINDIRIIAVVSVTVLLAISLAGMEWESK

Mouse                         DLLQEYGTPIVDPINDIRIIGVVTVTVLLAISLAGMEWESK

Rat                           DLLQENGTPIVDPINDIRIIGVVTVTVLLAISLAGMEWESK

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
Chain	1 – 1021	Solute carrier family 12 member 3
Transmembrane	258 – 277	Helical
Topological domain	278 – 278	Cytoplasmic

Literature citations
Gitelman's variant of Bartter's syndrome, inherited hypokalaemic alkalosis, is caused by mutations in the thiazide-sensitive Na-Cl cotransporter.
Simon D.B.; Nelson-Williams C.; Bia M.J.; Ellison D.; Karet F.E.; Molina A.M.; Vaara I.; Iwata F.; Cushner H.M.; Koolen M.; Gainza F.J.; Gitelman H.J.; Lifton R.P.;
Nat. Genet. 12:24-30(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 2); VARIANTS GTLMNS TRP-209; GLY-264; LEU-349; ARG-421; ASN-486; CYS-496; SER-561 DEL; VAL-588; VAL-630; HIS-655; LEU-655; ARG-741; PRO-850 AND GLN-955; VARIANT THR-728; FUNCTION; ACTIVITY REGULATION; Molecular cloning, expression pattern, and chromosomal localization of the human Na-Cl thiazide-sensitive cotransporter (SLC12A3).
Mastroianni N.; de Fusco M.; Zollo M.; Arrigo G.; Zuffardi O.; Bettinelli A.; Ballabio A.; Casari G.;
Genomics 35:486-493(1996)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANT GLY-264; TISSUE SPECIFICITY; Complete sequencing and characterization of 21,243 full-length human cDNAs.
Ota T.; Suzuki Y.; Nishikawa T.; Otsuki T.; Sugiyama T.; Irie R.; Wakamatsu A.; Hayashi K.; Sato H.; Nagai K.; Kimura K.; Makita H.; Sekine M.; Obayashi M.; Nishi T.; Shibahara T.; Tanaka T.; Ishii S.; Yamamoto J.; Saito K.; Kawai Y.; Isono Y.; Nakamura Y.; Nagahari K.; Murakami K.; Yasuda T.; Iwayanagi T.; Wagatsuma M.; Shiratori A.; Sudo H.; Hosoiri T.; Kaku Y.; Kodaira H.; Kondo H.; Sugawara M.; Takahashi M.; Kanda K.; Yokoi T.; Furuya T.; Kikkawa E.; Omura Y.; Abe K.; Kamihara K.; Katsuta N.; Sato K.; Tanikawa M.; Yamazaki M.; Ninomiya K.; Ishibashi T.; Yamashita H.; Murakawa K.; Fujimori K.; Tanai H.; Kimata M.; Watanabe M.; Hiraoka S.; Chiba Y.; Ishida S.; Ono Y.; Takiguchi S.; Watanabe S.; Yosida M.; Hotuta T.; Kusano J.; Kanehori K.; Takahashi-Fujii A.; Hara H.; Tanase T.-O.; Nomura Y.; Togiya S.; Komai F.; Hara R.; Takeuchi K.; Arita M.; Imose N.; Musashino K.; Yuuki H.; Oshima A.; Sasaki N.; Aotsuka S.; Yoshikawa Y.; Matsunawa H.; Ichihara T.; Shiohata N.; Sano S.; Moriya S.; Momiyama H.; Satoh N.; Takami S.; Terashima Y.; Suzuki O.; Nakagawa S.; Senoh A.; Mizoguchi H.; Goto Y.; Shimizu F.; Wakebe H.; Hishigaki H.; Watanabe T.; Sugiyama A.; Takemoto M.; Kawakami B.; Yamazaki M.; Watanabe K.; Kumagai A.; Itakura S.; Fukuzumi Y.; Fujimori Y.; Komiyama M.; Tashiro H.; Tanigami A.; Fujiwara T.; Ono T.; Yamada K.; Fujii Y.; Ozaki K.; Hirao M.; Ohmori Y.; Kawabata A.; Hikiji T.; Kobatake N.; Inagaki H.; Ikema Y.; Okamoto S.; Okitani R.; Kawakami T.; Noguchi S.; Itoh T.; Shigeta K.; Senba T.; Matsumura K.; Nakajima Y.; Mizuno T.; Morinaga M.; Sasaki M.; Togashi T.; Oyama M.; Hata H.; Watanabe M.; Komatsu T.; Mizushima-Sugano J.; Satoh T.; Shirai Y.; Takahashi Y.; Nakagawa K.; Okumura K.; Nagase T.; Nomura N.; Kikuchi H.; Masuho Y.; Yamashita R.; Nakai K.; Yada T.; Nakamura Y.; Ohara O.; Isogai T.; Sugano S.;
Nat. Genet. 36:40-45(2004)
Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 3); VARIANT GLY-264; Severe hypomagnesaemia-induced hypocalcaemia in a patient with Gitelman's syndrome.
Pantanetti P.; Arnaldi G.; Balercia G.; Mantero F.; Giacchetti G.;
Clin. Endocrinol. (Oxf.) 56:413-418(2002)
Cited for: VARIANT GTLMNS LEU-643; VARIANT GLY-264; Molecular variants of the thiazide-sensitive Na+-Cl- cotransporter in hypertensive families.
Keszei A.P.; Tisler A.; Backx P.H.; Andrulis I.L.; Bull S.B.; Logan A.G.;
J. Hypertens. 25:2074-2081(2007)
Cited for: VARIANTS GLY-264; THR-728; GLN-904 AND CYS-919; CHARACTERIZATION OF VARIANT CYS-919; Three Novel Homozygous Mutations of the SLC12A3 Gene in a Gitelman Syndrome Patient.
Zhong M.; Zhai Z.; Zhou X.; Sun J.; Chen H.; Lu W.;
Int. J. Gen. Med. 14:1999-2002(2021)
Cited for: VARIANTS GTLMNS MET-60 AND ASN-486; VARIANT GLY-264;

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