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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q695T7: Variant p.Pro265Leu

Sodium-dependent neutral amino acid transporter B(0)AT1
Gene: SLC6A19
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Variant information Variant position: help 265
Type of variant: help LP/P [Disclaimer]
Residue change: help From Proline (P) to Leucine (L) at position 265 (P265L, p.Pro265Leu).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In HND; does not affect interaction with ACE2; coexpression with ACE2 increased the transport rate whereas coexpression with CLTRN has the opposite effect.
Other resources: help


Sequence information Variant position: help 265
Protein sequence length: help 634
Location on the sequence: help KGATNGIVFLFTPNVTELAQ P DTWLDAGAQVFFSFSLAFGG
Residue conservation: help 
Human                         KGATNGIVFLFTPNVTELAQPDTWLDAGAQVFFSFSLAFGG

Mouse                         KGATNGIVFLFTPNITELSNPNTWLDAGAQVFYSFSLAFGG

Rat                           KGATNGIVFLFTPNITELSNPNTWLDAGAQVFYSFSLAFGG
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



Literature citations
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.