UniProtKB/Swiss-Prot P35916: Variant p.His1035Gln

Vascular endothelial growth factor receptor 3
Gene: FLT4
Feedback?

Variant information Variant position:

1035 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Histidine (H) to Glutamine (Q) at position 1035 (H1035Q, p.His1035Gln). 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:

Similar physico-chemical property. Both residues are medium size and polar. 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:

Found in sporadic congenital lymphedema; uncertain significance. Any additional useful information about the variant.

Sequence information Variant position:

1035 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1363 The length of the canonical sequence.
Location on the sequence:

VCYSFQVARGMEFLASRKCI H RDLAARNILLSESDVVKICD 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                         VCYSFQVARGMEFLASRKCIHRDLAARNILLSESDVVKICD

Mouse                         VCYSFQVARGMEFLASRKCIHRDLAARNILLSESDIVKICD

Rat                           VCYSFQVARGMEFLASRKCIHRDLAARNILLSESDIVKICD

Zebrafish                     ICYSFQVARGMEFLASRKCIHRDLAARNILLSENNVVKICD

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	25 – 1363	Vascular endothelial growth factor receptor 3
Topological domain	797 – 1363	Cytoplasmic
Domain	845 – 1173	Protein kinase
Active site	1037 – 1037	Proton acceptor
Alternative sequence	766 – 1298	Missing. In isoform 3.

Literature citations
Hereditary lymphedema type I associated with VEGFR3 mutation: the first de novo case and atypical presentations.
Ghalamkarpour A.; Morlot S.; Raas-Rothschild A.; Utkus A.; Mulliken J.B.; Boon L.M.; Vikkula M.;
Clin. Genet. 70:330-335(2006)
Cited for: VARIANTS LMPHM1 MET-878; THR-1086 AND PHE-1108 DEL; VARIANT GLN-1035; INVOLVEMENT IN LMPHM1;

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.