Variant position: 1072 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1139 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 IKDFFSMKPEWENLNQSNVR RMHTAVRLNEVIVKKSRDAKL
Mouse IKDFFSMKPEWENLNQSNVR RMHTAVRLNEVIVNKSRDAKL
Rat IKDFFSMKPEWENLNQSNVR RMHTAVRLNEVIVNKSRDAKL
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 – 1139 Solute carrier family 12 member 5
869 – 1139 Cytoplasmic
Genetically encoded impairment of neuronal KCC2 cotransporter function in human idiopathic generalized epilepsy.
Kahle K.T.; Merner N.D.; Friedel P.; Silayeva L.; Liang B.; Khanna A.; Shang Y.; Lachance-Touchette P.; Bourassa C.; Levert A.; Dion P.A.; Walcott B.; Spiegelman D.; Dionne-Laporte A.; Hodgkinson A.; Awadalla P.; Nikbakht H.; Majewski J.; Cossette P.; Deeb T.Z.; Moss S.J.; Medina I.; Rouleau G.A.;
EMBO Rep. 15:766-774(2014)
Cited for: INVOLVEMENT IN EIG14; VARIANTS EIG14 HIS-975 AND CYS-1072; CHARACTERIZATION OF VARIANTS EIG14 HIS-975 AND CYS-1072;
Regulatory domain or CpG site variation in SLC12A5, encoding the chloride transporter KCC2, in human autism and schizophrenia.
Merner N.D.; Chandler M.R.; Bourassa C.; Liang B.; Khanna A.R.; Dion P.; Rouleau G.A.; Kahle K.T.;
Front. Cell. Neurosci. 9:386-386(2015)
Cited for: VARIANT TRP-1071; VARIANTS EIG14 HIS-975 AND CYS-1072;
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