UniProtKB/Swiss-Prot Q16288: Variant p.Ile533Phe

NT-3 growth factor receptor
Gene: NTRK3
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Variant information Variant position:

533 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 Isoleucine (I) to Phenylalanine (F) at position 533 (I533F, p.Ile533Phe). 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 medium size and hydrophobic (I) to large size and aromatic (F) 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 patients with congenital heart defects; uncertain significance; no change in autophosphorylation; changed NTRK3 signaling with decreased apoptosis in absence of NTF3. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs869112057 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

NPQYFRQGHNCHKPDTYVQH I KRRDIVLKRELGEGAFGKVF 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                         NPQYFRQGHNCHKPDTYVQHIKRRDIVLKRELGEGAFGKVF

Chimpanzee                    NPQYFRQGHNCHKPDTYVQHIKRRDIVLKRELGEGAFGKVF

Mouse                         NPQYFRQGHNCHKPDTYVQHIKRRDIVLKRELGEGAFGKVF

Rat                           NPQYFRQGHNCHKPDTYVQHIKRRDIVLKRELGEGAFGKVF

Pig                           NPQYFRQGHNCHKPDTYVQHIKRRDIVLKRELGEGAFGKVF

Chicken                       NPQYFRQGHNCHKPDTYVQHIKRRDIVLKRELGEGAFGKVF

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	32 – 839	NT-3 growth factor receptor
Topological domain	454 – 839	Cytoplasmic
Site	516 – 516	Interaction with SHC1
Modified residue	516 – 516	Phosphotyrosine; by autocatalysis
Alternative sequence	529 – 612	YVQHIKRRDIVLKRELGEGAFGKVFLAECYNLSPTKDKMLVAVKALKDPTLAARKDFQREAELLTNLQHEHIVKFYGVCGDGDP -> WVFSNIDNHGILNLKDNRDHLVPSTHYIYEEPEVQSGEVSYPRSHGFREIMLNPISLPGHSKPLNHGIYVEDVNVYFSKGRHGF. In isoform 2.

Literature citations
Mutations in NTRK3 suggest a novel signaling pathway in human congenital heart disease.
Werner P.; Paluru P.; Simpson A.M.; Latney B.; Iyer R.; Brodeur G.M.; Goldmuntz E.;
Hum. Mutat. 35:1459-1468(2014)
Cited for: FUNCTION; PHOSPHORYLATION AT TYR-516; INVOLVEMENT IN CHD; VARIANTS PHE-21; VAL-71; MET-93; ILE-163; PHE-533 AND MET-817; CHARACTERIZATION OF VARIANTS MET-93; ILE-163; PHE-533 AND MET-817; MUTAGENESIS OF LYS-572;

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.