UniProtKB/Swiss-Prot Q9H6X2: Variant p.Ala326Thr

Anthrax toxin receptor 1
Gene: ANTXR1
Feedback?

Variant information Variant position:

326 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LB/B 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:

From Alanine (A) to Threonine (T) at position 326 (A326T, p.Ala326Thr). 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:

Change from small size and hydrophobic (A) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

0 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:

In HCI susceptibility; expression of FLT1 in hemangioma endothelial cells is markedly reduced compared to controls; low FLT1 expression in hemangioma cells is caused by reduced activity of a pathway involving ITGB1, ANTXR1, KDR and NFATC2IP; the mutation disrupts interaction of these molecules in a dominant-negative manner. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs119475040 [ dbSNP | Ensembl ]

Sequence information Variant position:

326 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

564 The length of the canonical sequence.
Location on the sequence:

ISSSVIITTTHCSDGSILAI A LLILFLLLALALLWWFWPLC 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:

The multiple alignment of the region surrounding the variant against various orthologous sequences.

Human                         ISSSVIITTTHCSDGSILAIALLILFLLLALALLWWFWPLC

Mouse                         ISSSVIITTTHCSDGSILAIALLVLFLLLALALLWWFWPLC

Rat                           ISSSVIITTTHCSDGSILAIALLILFLLLALALLWWFWPLC

Sequence annotation in neighborhood:

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.

Type	Positions	Description
Chain	33 – 564	Anthrax toxin receptor 1
Transmembrane	322 – 342	Helical
Alternative sequence	298 – 564	Missing. In isoform 3.
Alternative sequence	315 – 358	THCSDGSILAIALLILFLLLALALLWWFWPLCCTVIIKEVPPPP -> FHPSPSSPGSTSQQGTSSLPPSSKAFCLEPKVPALGSLRNFRRC. In isoform 6.
Alternative sequence	319 – 333	DGSILAIALLILFLL -> LHKIASGPTTAACME. In isoform 4.

Literature citations
Suppressed NFAT-dependent VEGFR1 expression and constitutive VEGFR2 signaling in infantile hemangioma.
Jinnin M.; Medici D.; Park L.; Limaye N.; Liu Y.; Boscolo E.; Bischoff J.; Vikkula M.; Boye E.; Olsen B.R.;
Nat. Med. 14:1236-1246(2008)
Cited for: VARIANT HCI SUSCEPTIBILITY THR-326;

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.