UniProtKB/Swiss-Prot Q13428: Variant p.Ala1390Val

Treacle protein
Gene: TCOF1
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Variant information Variant position:

1390 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 Valine (V) at position 1390 (A1390V, p.Ala1390Val). 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 hydrophobic (V) 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
Other resources:

Links to websites of interest for the variant.

Variant rs15251 [ dbSNP | Ensembl ]

Sequence information Variant position:

1390 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length:

1488 The length of the canonical sequence.
Location on the sequence:

GEGGEASVSPEKTSTTSKGK A KRDKASGDVKEKKGKGSLGS 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                         GEGGEASVSPEKTSTTSKGKAKRDKASGDVKEKKGKGSLGS

Mouse                         PRA--SAVSPEKAPMTSKAKSKLDKGSAG---GKGKGSPGP

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	1 – 1488	Treacle protein
Region	1322 – 1488	Disordered
Compositional bias	1385 – 1425	Basic and acidic residues
Modified residue	1376 – 1376	Phosphoserine
Modified residue	1378 – 1378	Phosphoserine
Modified residue	1407 – 1407	Phosphoserine
Modified residue	1410 – 1410	Phosphoserine
Alternative sequence	959 – 1488	Missing. In isoform 5.

Literature citations
The mutational spectrum in Treacher Collins syndrome reveals a predominance of mutations that create a premature-termination codon.
Edwards S.J.; Gladwin A.J.; Dixon M.J.;
Am. J. Hum. Genet. 60:515-524(1997)
Cited for: VARIANTS LEU-516; ALA-887; VAL-1390 AND GLY-1432; VARIANT TCS1 ARG-53;

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.