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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q695T7: Variant p.Val252Ile

Sodium-dependent neutral amino acid transporter B(0)AT1
Gene: SLC6A19
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Variant information Variant position: help 252
Type of variant: help LB/B
Residue change: help From Valine (V) to Isoleucine (I) at position 252 (V252I, p.Val252Ile).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help 3
Variant description: help Does not affect cell membrane localization; does not affect amino acid transport activity.
Other resources: help


Sequence information Variant position: help 252
Protein sequence length: help 634
Location on the sequence: help VVLTIFLIRGLTLKGATNGI V FLFTPNVTELAQPDTWLDAG
Residue conservation: help 
Human                         VVLTIFLIRGLTLKGATNGIVFLFTPNVTELAQPDTWLDAG

Mouse                         VVLTIFLIRGLTLKGATNGIVFLFTPNITELSNPNTWLDAG

Rat                           VVLTIFLIRGLTLKGATNGIVFLFTPNITELSNPNTWLDAG
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 634 Sodium-dependent neutral amino acid transporter B(0)AT1
Topological domain 243 – 268 Extracellular
Glycosylation 258 – 258 N-linked (GlcNAc...) asparagine
Helix 251 – 255



Literature citations
Hartnup disorder is caused by mutations in the gene encoding the neutral amino acid transporter SLC6A19.
Seow H.F.; Broeer S.; Broeer A.; Bailey C.G.; Potter S.J.; Cavanaugh J.A.; Rasko J.E.J.;
Nat. Genet. 36:1003-1007(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; FUNCTION; TRANSPORTER ACTIVITY; TISSUE SPECIFICITY; VARIANTS HND ASN-173; GLN-240; PRO-242 AND LYS-501; CHARACTERIZATION OF VARIANTS HND ASN-173; GLN-240; PRO-242 AND LYS-501; VARIANTS GLN-240 AND ILE-252; CHARACTERIZATION OF VARIANT ILE-252; Tissue-specific amino acid transporter partners ACE2 and collectrin differentially interact with hartnup mutations.
Camargo S.M.; Singer D.; Makrides V.; Huggel K.; Pos K.M.; Wagner C.A.; Kuba K.; Danilczyk U.; Skovby F.; Kleta R.; Penninger J.M.; Verrey F.;
Gastroenterology 136:872-882(2009)
Cited for: FUNCTION; SUBCELLULAR LOCATION; VARIANTS HND THR-69; ARG-93; LEU-265 AND LEU-579; CHARACTERIZATION OF VARIANTS HND CYS-57; THR-69; ARG-93; PRO-242 AND LYS-501 AND PRO-579; CHARACTERIZATION OF VARIANTS GLN-240 AND ILE-252;
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.