Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9H2X9: Variant p.Arg975His

Solute carrier family 12 member 5
Gene: SLC12A5
Feedback?
Variant information Variant position: help 975 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help LP/P [Disclaimer] 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: help From Arginine (R) to Histidine (H) at position 975 (R975H, p.Arg975His). 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: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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
Variant description: help In EIG14; rare variant associated with disease susceptibility; results in reduced chloride transport; decreased localization at the cell surface; unable to induce cortical dendritic spines formation. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 975 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1139 The length of the canonical sequence.
Location on the sequence: help SITDESRGSIRRKNPANTRL R LNVPEETAGDSEEKPEEEVQ 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         SITDESRGSIRRKNPANTRLRLNVPEETAGDSEEKPEEEVQ

Mouse                         SITDESRGSIRRKNPANPRLRLNVPEETACDNEEKPEEEVQ

Rat                           SITDESRGSIRRKNPANTRLRLNVPEETACDNEEKPEEEVQ
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 1139 Solute carrier family 12 member 5
Topological domain 656 – 1139 Cytoplasmic
Region 942 – 1052 Disordered



Literature citations
A variant of KCC2 from patients with febrile seizures impairs neuronal Cl- extrusion and dendritic spine formation.
Puskarjov M.; Seja P.; Heron S.E.; Williams T.C.; Ahmad F.; Iona X.; Oliver K.L.; Grinton B.E.; Vutskits L.; Scheffer I.E.; Petrou S.; Blaesse P.; Dibbens L.M.; Berkovic S.F.; Kaila K.;
EMBO Rep. 15:723-729(2014)
Cited for: FUNCTION; INVOLVEMENT IN EIG14; VARIANT EIG14 HIS-975; CHARACTERIZATION OF VARIANT EIG14 HIS-975; 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;
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.