UniProtKB/SwissProt variant VAR

Alpha-ketoglutarate-dependent dioxygenase FTO
Gene: FTO
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Variant information Variant position:

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

LP/P [Disclaimer] 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 Arginine (R) to Glutamine (Q) at position 316 (R316Q, p.Arg316Gln). 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 basic (R) to medium size and polar (Q) 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
Variant description:

In GDFD; has no residual normal activity, impaired ability to demethylate N(6)-methyladenosine RNAs (m6A) RNAs. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs121918214 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

FMLDDLNATHQHCVLAGSQP R FSSTHRVAECSTGTLDYILQ 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                         FMLDDLNATHQHCVLAGSQPRFSSTHRVAECSTGTLDYILQ

Mouse                         FMLDDLNATHQHCVLAGSQPRFSSTHRVAECSTGTLDYILE

Rat                           FMLDDLNATHQHCVLAGSQPRFSSTHRVAECSTGTLDYILQ

Xenopus laevis                LMLDDLNKTHQHCVIAGCQPRFSSTHRVAESSTGTLQYIKS

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 – 505	Alpha-ketoglutarate-dependent dioxygenase FTO
Region	32 – 327	Fe2OG dioxygenase domain
Binding site	307 – 307
Binding site	316 – 318
Binding site	320 – 320
Binding site	322 – 322
Alternative sequence	1 – 445	Missing. In isoform 3.
Alternative sequence	1 – 399	Missing. In isoform 4.
Alternative sequence	1 – 378	Missing. In isoform 2.
Beta strand	316 – 322

Literature citations
N6-methyladenosine in nuclear RNA is a major substrate of the obesity-associated FTO.
Jia G.; Fu Y.; Zhao X.; Dai Q.; Zheng G.; Yang Y.; Yi C.; Lindahl T.; Pan T.; Yang Y.G.; He C.;
Nat. Chem. Biol. 7:885-887(2011)
Cited for: FUNCTION; SUBCELLULAR LOCATION; MUTAGENESIS OF 231-HIS--ASP-233; CHARACTERIZATION OF VARIANT GDFD GLN-316; Loss-of-function mutation in the dioxygenase-encoding FTO gene causes severe growth retardation and multiple malformations.
Boissel S.; Reish O.; Proulx K.; Kawagoe-Takaki H.; Sedgwick B.; Yeo G.S.; Meyre D.; Golzio C.; Molinari F.; Kadhom N.; Etchevers H.C.; Saudek V.; Farooqi I.S.; Froguel P.; Lindahl T.; O'Rahilly S.; Munnich A.; Colleaux L.;
Am. J. Hum. Genet. 85:106-111(2009)
Cited for: VARIANT GDFD GLN-316; CHARACTERIZATION OF VARIANT GDFD GLN-316;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9C0B1: Variant p.Arg316Gln