UniProtKB/SwissProt variant VAR

Dynamin-1
Gene: DNM1
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Variant information Variant position:

237 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 Tryptophan (W) at position 237 (R237W, p.Arg237Trp). 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 large size and aromatic (W) 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:

In DEE31A. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs760270633 [ dbSNP | Ensembl ]

Sequence information Variant position:

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

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

RDVLENKLLPLRRGYIGVVN R SQKDIDGKKDITAALAAERK 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                         RDVLENKLLPLRRGYIGVVNRSQKDIDGKKDITAALAAERK

Mouse                         RDVLENKLLPLRRGYIGVVNRSQKDIDGKKDITAALAAERK

Rat                           RDVLENKLLPLRRGYIGVVNRSQKDIDGKKDITAALAAERK

Bovine                        RDVLENKLLPLRRGYIGVVNRSQKDIDGKKDITAALAAERK

Caenorhabditis elegans        REILENKLFTLRRGYVGVVNRGQKDIVGRKDIRAALDAERK

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 – 864	Dynamin-1
Domain	28 – 294	Dynamin-type G
Region	235 – 238	G5 motif
Binding site	236 – 236
Binding site	237 – 237
Binding site	239 – 239

Literature citations
De novo mutations in synaptic transmission genes including DNM1 cause epileptic encephalopathies.
Appenzeller S.; Balling R.; Barisic N.; Baulac S.; Caglayan H.; Craiu D.; De Jonghe P.; Depienne C.; Dimova P.; Djemie T.; Gormley P.; Guerrini R.; Helbig I.; Hjalgrim H.; Hoffman-Zacharska D.; Jahn J.; Klein K.M.; Koeleman B.; Komarek V.; Krause R.; Kuhlenbaumer G.; Leguern E.; Lehesjoki A.E.; Lemke J.R.; Lerche H.; Linnankivi T.; Marini C.; May P.; Moller R.S.; Muhle H.; Pal D.; Palotie A.; Pendziwiat M.; Robbiano A.; Roelens F.; Rosenow F.; Selmer K.; Serratosa J.M.; Sisodiya S.; Stephani U.; Sterbova K.; Striano P.; Suls A.; Talvik T.; von Spiczak S.; Weber Y.; Weckhuysen S.; Zara F.; Abou-Khalil B.; Alldredge B.K.; Andermann E.; Andermann F.; Amron D.; Bautista J.F.; Berkovic S.F.; Bluvstein J.; Boro A.; Cascino G.; Consalvo D.; Crumrine P.; Devinsky O.; Dlugos D.; Epstein M.P.; Fiol M.; Fountain N.B.; French J.; Friedman D.; Geller E.B.; Glauser T.; Glynn S.; Haas K.; Haut S.R.; Hayward J.; Helmers S.L.; Joshi S.; Kanner A.; Kirsch H.E.; Knowlton R.C.; Kossoff E.H.; Kuperman R.; Kuzniecky R.; Lowenstein D.H.; McGuire S.M.; Motika P.V.; Novotny E.J.; Ottman R.; Paolicchi J.M.; Parent J.; Park K.; Poduri A.; Sadleir L.; Scheffer I.E.; Shellhaas R.A.; Sherr E.; Shih J.J.; Singh R.; Sirven J.; Smith M.C.; Sullivan J.; Thio L.L.; Venkat A.; Vining E.P.; Von Allmen G.K.; Weisenberg J.L.; Widdess-Walsh P.; Winawer M.R.; Allen A.S.; Berkovic S.F.; Cossette P.; Delanty N.; Dlugos D.; Eichler E.E.; Epstein M.P.; Glauser T.; Goldstein D.B.; Han Y.; Heinzen E.L.; Johnson M.R.; Kuzniecky R.; Lowenstein D.H.; Marson A.G.; Mefford H.C.; Nieh S.E.; O'Brien T.J.; Ottman R.; Petrou S.; Petrovski S.; Poduri A.; Ruzzo E.K.; Scheffer I.E.; Sherr E.;
Am. J. Hum. Genet. 95:360-370(2014)
Cited for: INVOLVEMENT IN DEE31A; VARIANTS DEE31A PRO-177; ASN-206; TRP-237 AND ALA-359; De novo mutations in SLC1A2 and CACNA1A are important causes of epileptic encephalopathies.
Epi4K Consortium;
Am. J. Hum. Genet. 99:287-298(2016)
Cited for: VARIANT DEE31A TRP-237;

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 Q05193: Variant p.Arg237Trp