Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y6R1: Variant p.Arg342Ser

Electrogenic sodium bicarbonate cotransporter 1
Gene: SLC4A4
Feedback?
Variant information Variant position: help 342 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 Serine (S) at position 342 (R342S, p.Arg342Ser). 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 small size and polar (S) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -1 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 pRTA-OA; decreased localization to the basolateral membrane; mistargeting to the apical membrane probably explains the loss of the cotransporter activity. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 342 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1079 The length of the canonical sequence.
Location on the sequence: help RFLFILLGPKGKAKSYHEIG R AIATLMSDEVFHDIAYKAKD 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                         RFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKD

Mouse                         RFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKD

Rat                           RFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKD

Pig                           RFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKD

Bovine                        RFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKD

Rabbit                        RFLFILLGPKGKAKSYHEIGRAIATLMSDEVFHDIAYKAKD
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 – 1079 Electrogenic sodium bicarbonate cotransporter 1
Topological domain 1 – 466 Cytoplasmic



Literature citations
Mutations in SLC4A4 cause permanent isolated proximal renal tubular acidosis with ocular abnormalities.
Igarashi T.; Inatomi J.; Sekine T.; Cha S.H.; Kanai Y.; Kunimi M.; Tsukamoto K.; Satoh H.; Shimadzu M.; Tozawa F.; Mori T.; Shiobara M.; Seki G.; Endou H.;
Nat. Genet. 23:264-266(1999)
Cited for: VARIANTS PRTA-OA SER-342 AND HIS-554; Functional analysis of NBC1 mutants associated with proximal renal tubular acidosis and ocular abnormalities.
Horita S.; Yamada H.; Inatomi J.; Moriyama N.; Sekine T.; Igarashi T.; Endo Y.; Dasouki M.; Ekim M.; Al-Gazali L.; Shimadzu M.; Seki G.; Fujita T.;
J. Am. Soc. Nephrol. 16:2270-2278(2005)
Cited for: VARIANTS PRTA-OA SER-342; SER-529; HIS-554; VAL-843 AND CYS-925; CHARACTERIZATION OF VARIANTS PRTA-OA SER-342; SER-529; HIS-554; VAL-843 AND CYS-925; FUNCTION; TRANSPORTER ACTIVITY; SUBCELLULAR LOCATION; Functional analysis of a novel missense NBC1 mutation and of other mutations causing proximal renal tubular acidosis.
Suzuki M.; Vaisbich M.H.; Yamada H.; Horita S.; Li Y.; Sekine T.; Moriyama N.; Igarashi T.; Endo Y.; Cardoso T.P.; de Sa L.C.; Koch V.H.; Seki G.; Fujita T.;
Pflugers Arch. 455:583-593(2008)
Cited for: VARIANT PRTA-OA ARG-530; CHARACTERIZATION OF VARIANTS PRTA-OA SER-342 SER-529; ARG-530 AND PRO-566; FUNCTION; SUBCELLULAR LOCATION; TRANSPORTER ACTIVITY;
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.