UniProtKB/Swiss-Prot Q8N6R0: Variant p.Tyr16Cys

eEF1A lysine and N-terminal methyltransferase
Gene: METTL13
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Variant information Variant position:

16 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 Tyrosine (Y) to Cysteine (C) at position 16 (Y16C, p.Tyr16Cys). 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 large size and aromatic (Y) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-2 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
Polymorphism:

Genetic variants in METTL13 define the deafness modifier locus DFNB26M [MIM:605429]. The DFNB26M phenotype is characterized by normal hearing despite the presence of homozygosity for a causative deafness mutation in the GAB1 gene. Additional information on the polymorphism described.
Variant description:

Found in a renal cell carcinoma sample; somatic mutation. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs774565178 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

MNLLPKSSREFGSVD Y WEKFFQQRGKKAFEWYGTYL 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                         MNLLPKSSREFGSVDYWEKFFQQRGKKAFEWYGTYL

Mouse                         MNLLPKSSKEFGSADYWEKFFQQRGKTAFEWYGTYL

Bovine                        MNLLPKSSKEFGSVDYWEKFFQQRGKKAFEWYGTYL

Xenopus laevis                MDLLPKSSKEFAAPEYWEQFFRRRGERAFEWYGGYL

Zebrafish                     MSLLPRTAEEFSSADYWERFFRKRGEKAFEWYGDYN

Drosophila                    MNLLPKTREEFAQTDYWNEFFKKRGEKAFEWYGEYL

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 – 699	eEF1A lysine and N-terminal methyltransferase
Modified residue	1 – 1	N-acetylmethionine
Alternative sequence	1 – 86	Missing. In isoform 3 and isoform 5.

Literature citations
Exome sequencing identifies frequent mutation of the SWI/SNF complex gene PBRM1 in renal carcinoma.
Varela I.; Tarpey P.; Raine K.; Huang D.; Ong C.K.; Stephens P.; Davies H.; Jones D.; Lin M.L.; Teague J.; Bignell G.; Butler A.; Cho J.; Dalgliesh G.L.; Galappaththige D.; Greenman C.; Hardy C.; Jia M.; Latimer C.; Lau K.W.; Marshall J.; McLaren S.; Menzies A.; Mudie L.; Stebbings L.; Largaespada D.A.; Wessels L.F.A.; Richard S.; Kahnoski R.J.; Anema J.; Tuveson D.A.; Perez-Mancera P.A.; Mustonen V.; Fischer A.; Adams D.J.; Rust A.; Chan-On W.; Subimerb C.; Dykema K.; Furge K.; Campbell P.J.; Teh B.T.; Stratton M.R.; Futreal P.A.;
Nature 469:539-542(2011)
Cited for: VARIANT CYS-16;

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.