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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q695T7: Variant p.Leu242Pro

Sodium-dependent neutral amino acid transporter B(0)AT1
Gene: SLC6A19
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Variant information Variant position: help 242 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 Leucine (L) to Proline (P) at position 242 (L242P, p.Leu242Pro). 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 HND; no amino acid transport activity when expressed alone or coexpressed with CLTRN or ACE2; loss of surface expression when expressed coexpressed 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 242 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 AVYITSTLPYVVLTIFLIRG L TLKGATNGIVFLFTPNVTEL 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                         AVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNVTEL

Mouse                         AVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNITEL

Rat                           AVYITSTLPYVVLTIFLIRGLTLKGATNGIVFLFTPNITEL
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



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.