UniProtKB/Swiss-Prot Q86W50: Variant p.Gly110Cys

RNA N6-adenosine-methyltransferase METTL16
Gene: METTL16
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Variant information Variant position:

110 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

US 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 Glycine (G) to Cysteine (C) at position 110 (G110C, p.Gly110Cys). 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 glycine (G) to medium size and polar (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

-3 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
Variant description:

Found in patients with large intestine cancer; abolished methyltransferase activity. Any additional useful information about the variant.

Sequence information Variant position:

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

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

EDLIGHQDSDKSTLRRGIDI G TGASCIYPLLGATLNGWYFL 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                         ED-------LIGHQDSDKSTLRRGIDIGTGASCIYPLLGATL-NGWYFL

Mouse                         ED-------LIGHQDSDKTTLRRGIDIGTGASCIYPLLGAT

Chicken                       ED-------LIGHQDADKRVLRRGIDIGTGASCIYPLLGST

Xenopus laevis                ED-------LINYHDSDKTALRRGIDIGTGASCIYPLLGAT

Zebrafish                     ED-------LIGGQGNPQ----RGIDIGTGASCIYPLLGAT

Caenorhabditis elegans        DD-------LLKANKLTKNVI--GIDIGTGTSCIHALIGAR

Drosophila                    ED-------LMEPLNLQNI---RGIDIGCGSSCIYSLLGAK

Slime mold                    SDQLKNLKIILNDNDNDNKII-KGIDIGTGTSCIFPLLGAK

Baker's yeast                 PQ--------------------------------------T

Fission yeast                 PE---------------------TLDLLEKVKTKYPNVPVH

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 – 562	RNA N6-adenosine-methyltransferase METTL16
Binding site	110 – 110
Binding site	114 – 114
Beta strand	105 – 110

Literature citations
Structural basis for regulation of METTL16, an S-adenosylmethionine homeostasis factor.
Doxtader K.A.; Wang P.; Scarborough A.M.; Seo D.; Conrad N.K.; Nam Y.;
Mol. Cell 71:1001-1011(2018)
Cited for: X-RAY CRYSTALLOGRAPHY (1.70 ANGSTROMS) OF 1-310 IN COMPLEX WITH RNA; FUNCTION; CATALYTIC ACTIVITY; ACTIVITY REGULATION; MUTAGENESIS OF ASN-39; ARG-82; GLU-133; LYS-163; MET-167 AND ASN-184; VARIANT CYS-110; CHARACTERIZATION OF VARIANT CYS-110;

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.