UniProtKB/Swiss-Prot Q9Y259: Variant p.Thr301Ile

Choline/ethanolamine kinase
Gene: CHKB
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Variant information Variant position:

301 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 Isoleucine (I) at position 301 (T301I, p.Thr301Ile). 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 medium size and hydrophobic (I) 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 rs147485527 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FCEWVYDYTHEEWPFYKARP T DYPTQEQQLHFIRHYLAEAK 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                         FCEWVYDYTHEEWPFYKARPTDYPTQEQQLHFIRHYLAEAK

Mouse                         FCEWVYDYTYEEWPFYKARPTDYPTREQQLHFIRHYLAEVQ

Rat                           FCEWVYDYTYEEWPFYKARPADYPTREQQLLFIRHYLAEVQ

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	2 – 395	Choline/ethanolamine kinase
Alternative sequence	128 – 395	Missing. In isoform 2.
Helix	300 – 302

Literature citations
A congenital muscular dystrophy with mitochondrial structural abnormalities caused by defective de novo phosphatidylcholine biosynthesis.
Mitsuhashi S.; Ohkuma A.; Talim B.; Karahashi M.; Koumura T.; Aoyama C.; Kurihara M.; Quinlivan R.; Sewry C.; Mitsuhashi H.; Goto K.; Koksal B.; Kale G.; Ikeda K.; Taguchi R.; Noguchi S.; Hayashi Y.K.; Nonaka I.; Sher R.B.; Sugimoto H.; Nakagawa Y.; Cox G.A.; Topaloglu H.; Nishino I.;
Am. J. Hum. Genet. 88:845-851(2011)
Cited for: FUNCTION; CATALYTIC ACTIVITY; INVOLVEMENT IN MDCMC; VARIANTS MDCMC 39-SER--SER-395 DEL; 185-PRO--TRP-187 DEL; 270-TYR--SER-395 DEL; LYS-283; 308-GLN--SER-395 DEL AND LEU-377; CHARACTERIZATION OF VARIANTS MDCMC 39-SER--SER-395 DEL; 185-PRO--TRP-187 DEL; 270-TYR--SER-395 DEL; LYS-283 AND LEU-377; VARIANTS ILE-301 AND ARG-328;

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.