UniProtKB/Swiss-Prot P48730: Variant p.Pro401Ala

Casein kinase I isoform delta
Gene: CSNK1D
Feedback?

Variant information Variant position:

401 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 Proline (P) to Alanine (A) at position 401 (P401A, p.Pro401Ala). 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 (P) to small size and hydrophobic (A) 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 rs56124628 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

ISSSDLTGRQDTSRMSTSQI P GRVASSGLQSVVHR 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                         ISSSDLTGRQDTSRMSTSQIPGRVASSGLQSVVHR

Mouse                         VSSSDLTGRQDTSRMSTSQIPGRVASSGLQSVVHR

Rat                           VSSSDLTGRQDTSRMSTSQIPGRVASSGLQSVVHR

Bovine                        ISSSDLTGRQDTSRMSTSQIPGRVASSGLQSVVHR

Xenopus laevis                VSSSDLTSRQDTSRMSTSQIPSRVTSSGLPSTVHR

Xenopus tropicalis            VSSSDLTGRQETSRMSTSQIPSRVASSGLPSTVHR

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 – 415	Casein kinase I isoform delta
Region	301 – 415	Disordered
Compositional bias	380 – 415	Polar residues
Modified residue	382 – 382	Phosphoserine
Modified residue	383 – 383	Phosphoserine
Modified residue	384 – 384	Phosphoserine
Modified residue	407 – 407	Phosphoserine
Modified residue	411 – 411	Phosphoserine
Alternative sequence	400 – 415	IPGRVASSGLQSVVHR -> NSIPFEHHGK. In isoform 2.

Literature citations
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] CYS-97 AND ALA-401;

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.