UniProtKB/Swiss-Prot P23760: Variant p.Thr315Lys

• Variant information
• Sequence information
• Literature citations
• All

Variant information

Variant position: 315 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 Threonine (T) to Lysine (K) at position 315 (T315K, p.Thr315Lys). 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 polar (T) to large size and basic (K) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: -1 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 rs2234675 [ dbSNP | Ensembl ]

Sequence information

Variant position: 315 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 479 The length of the canonical sequence.
Location on the sequence: PPTAMPTLPTYQLSETSYQP T SIPQAVSDPSSTVHRPQPLP 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.
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 – 479	Paired box protein Pax-3
Region	309 – 351	Disordered
Alternative sequence	207 – 479	Missing. In isoform Pax3B.
Alternative sequence	216 – 479	Missing. In isoform Pax3A.

Literature citations

The mutational spectrum in Waardenburg syndrome.
Tassabehji M.; Newton V.E.; Liu X.-Z.; Brady A.; Donnai D.; Krajewska-Walasek M.; Murday V.; Norman A.; Obersztyn E.; Reardon W.; Rice J.C.; Trembath R.; Wieacker P.; Whiteford M.; Winter R.; Read A.P.;
Hum. Mol. Genet. 4:2131-2137(1995)
Cited for: VARIANTS WS1 MET-78; ALA-81; ASP-99; CYS-266; CYS-270; CYS-271 AND HIS-271; VARIANT LYS-315; Phenotypic variation in Waardenburg syndrome: mutational heterogeneity, modifier genes or polygenic background?
Pandya A.; Xia X.-J.; Landa B.L.; Arnos K.S.; Israel J.; Lloyd J.; James A.L.; Diehl S.R.; Blanton S.H.; Nance W.E.;
Hum. Mol. Genet. 5:497-502(1996)
Cited for: VARIANTS WS1 ARG-48; 223-ARG--PHE-479 DEL; CYS-270; HIS-271 AND LYS-273; VARIANT LYS-315; PAX genes and human neural tube defects: an amino acid substitution in PAX1 in a patient with spina bifida.
Hol F.A.; Geurds M.P.A.; Chatkupt S.; Shugart Y.Y.; Balling R.; Schrander-Stumpel C.T.R.M.; Johnson W.G.; Hamel B.C.J.; Mariman E.C.M.;
J. Med. Genet. 33:655-660(1996)
Cited for: VARIANT LYS-315; A PAX3 polymorphism (T315K) in a family exhibiting Waardenburg syndrome type 2.
Wang C.; Kim E.; Attaie A.; Smith T.N.; Wilcox E.R.; Lalwani A.K.;
Mol. Cell. Probes 12:55-57(1998)
Cited for: VARIANT LYS-315;