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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96RN1: Variant p.Ser230Asn

Testis anion transporter 1
Gene: SLC26A8
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Variant information Variant position: help 230
Type of variant: help LB/B
Residue change: help From Serine (S) to Asparagine (N) at position 230 (S230N, p.Ser230Asn).
Physico-chemical properties: help Change from small size and polar (S) to medium size and polar (N)
BLOSUM score: help 1
Variant description: help Not a cause of male infertility.
Other resources: help


Sequence information Variant position: help 230
Protein sequence length: help 970
Location on the sequence: help LIMGVLGLGFIATYLPESAM S AYLAAVALHIMLSQLTFIFG
Residue conservation: help 
Human                         LIMGVLGLGFIATYLPESAMSAYLAAVALHIMLSQLTFIFG

Mouse                         LSMGMLGMGFMATYLPEAATSAYLAAVALHIILAQMTCILG

Bovine                        LSMGMLGFGFIVAYIPEAAISAYLAATALHVMLSQLTCIFG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 970 Testis anion transporter 1
Topological domain 224 – 232 Cytoplasmic
Alternative sequence 2 – 419 Missing. In isoform 3.
Alternative sequence 210 – 314 Missing. In isoform 2.



Literature citations
Cloning of human SLC26A8, a new member of the sulphate transporter gene family of anion transporter/exchangers.
Mount D.B.;
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM 1); VARIANTS MET-73; VAL-148; ASN-230 AND VAL-639; Mutational analysis of the human SLC26A8 gene: exclusion as a candidate for male infertility due to primary spermatogenic failure.
Makela S.; Eklund R.; Lahdetie J.; Mikkola M.; Hovatta O.; Kere J.;
Mol. Hum. Reprod. 11:129-132(2005)
Cited for: VARIANTS MET-73; VAL-148; ASN-230 AND VAL-639; MUTAGENESIS OF PRO-914;
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.