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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q695T7: Variant p.Arg240Gln

Sodium-dependent neutral amino acid transporter B(0)AT1
Gene: SLC6A19
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Variant information Variant position: help 240 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 Glutamine (Q) at position 240 (R240Q, p.Arg240Gln). 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 medium size and polar (Q) 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 HND; does not affect amino acid transport activity when expressed alone; decreases amino acid transport activity in presence of ACE2 or CLTRN; decreased surface cell expression when expressed with CLTRN or ACE2. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 240 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 634 The length of the canonical sequence.
Location on the sequence: help GKAVYITSTLPYVVLTIFLI R GLTLKGATNGIVFLFTPNVT 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                         GKAVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNVT

Mouse                         GKAVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNIT

Rat                           GKAVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNIT
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 – 634 Sodium-dependent neutral amino acid transporter B(0)AT1
Transmembrane 222 – 242 Helical; Name=5
Glycosylation 258 – 258 N-linked (GlcNAc...) asparagine
Helix 219 – 241



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; A protein complex in the brush-border membrane explains a Hartnup disorder allele.
Kowalczuk S.; Broeer A.; Tietze N.; Vanslambrouck J.M.; Rasko J.E.; Broeer S.;
FASEB J. 22:2880-2887(2008)
Cited for: FUNCTION; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; CHARACTERIZATION OF VARIANT HND GLN-240; Further evidence for allelic heterogeneity in Hartnup disorder.
Azmanov D.N.; Kowalczuk S.; Rodgers H.; Auray-Blais C.; Giguere R.; Rasko J.E.; Broeer S.; Cavanaugh J.A.;
Hum. Mutat. 29:1217-1221(2008)
Cited for: VARIANTS HND ARG-66; ARG-93; ASN-173; 178-ARG--TYR-634 DEL; GLN-240; ARG-284; CYS-328; LYS-405 AND GLY-517; CHARACTERIZATION OF VARIANTS HND ARG-66; ARG-93; 178-ARG--TYR-634 DEL; ARG-284; CYS-328; LYS-405 AND GLY-517; FUNCTION; SUBCELLULAR LOCATION; 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.