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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6U841: Variant p.Pro965Leu

Sodium-driven chloride bicarbonate exchanger
Gene: SLC4A10
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Variant information Variant position: help 965 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 Proline (P) to Leucine (L) at position 965 (P965L, p.Pro965Leu). 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 Similar physico-chemical property. Both residues are medium size and hydrophobic. The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 NEDHBA; likely pathogenic; affects function in cellular pH regulation; retained intracellularly with loss of localization to cell membrane. Any additional useful information about the variant.


Sequence information Variant position: help 965 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1118 The length of the canonical sequence.
Location on the sequence: help MGASSLKGIQFFDRIKLFWM P AKHQPDFIYLRHVPLRKVHL 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                         MGASSLKGIQFFDRIKLFWMPAKHQPDFIYLRHVPLRKVHL

Mouse                         MGASSLKGIQLFDRIKLFWMPAKHQPDFIYLRHVPLRKVHL

Rat                           MGASSLKGIQLFDRIKLFWMPAKHQPDFIYLRHVPLRKVHL

Bovine                        MGASSLKGIQFFDRIKLFWMPAKHQPDFIYLRHVPLRKVHL
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 – 1118 Sodium-driven chloride bicarbonate exchanger
Topological domain 957 – 998 Extracellular
Alternative sequence 409 – 1118 Missing. In isoform 4.



Literature citations
Biallelic variants in SLC4A10 encoding a sodium-dependent bicarbonate transporter lead to a neurodevelopmental disorder.
Maroofian R.; Zamani M.; Kaiyrzhanov R.; Liebmann L.; Karimiani E.G.; Vona B.; Huebner A.K.; Calame D.G.; Misra V.K.; Sadeghian S.; Azizimalamiri R.; Mohammadi M.H.; Zeighami J.; Heydaran S.; Toosi M.B.; Akhondian J.; Babaei M.; Hashemi N.; Schnur R.E.; Suri M.; Setzke J.; Wagner M.; Brunet T.; Grochowski C.M.; Emrick L.; Chung W.K.; Hellmich U.A.; Schmidts M.; Lupski J.R.; Galehdari H.; Severino M.; Houlden H.; Huebner C.A.;
Genet. Med. 26:101034-101034(2024)
Cited for: VARIANTS NEDHBA TYR-223; THR-351; CYS-538; TRP-622; PHE-706; CYS-721 AND LEU-965; CHARACTERIZATION OF VARIANTS NEDHBA TYR-223; TRP-622; CYS-721; 873-TRP--SER-1118 DEL AND LEU-965; INVOLVEMENT IN NEDHBA;
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.