UniProtKB/SwissProt variant VAR

Activin receptor type-1
Gene: ACVR1
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Variant information Variant position:

41
Type of variant:

LB/B
Residue change:

From Serine (S) to Phenylalanine (F) at position 41 (S41F, p.Ser41Phe).
Physico-chemical properties:

Change from small size and polar (S) to large size and aromatic (F)
BLOSUM score:

-2
Other resources:

Variant rs55957214 [ dbSNP | Ensembl ]

Sequence information Variant position:

41
Protein sequence length:

509
Location on the sequence:

MEDEKPKVNPKLYMCVCEGL S CGNEDHCEGQQCFSSLSIND
Residue conservation:

Human                         MEDEKPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSIND

Mouse                         VEDEKPKVNQKLYMCVCEGLSCGNEDHCEGQQCFSSLSIND

Rat                           MEDEEPKVNPKLYMCVCEGLSCGNEDHCEGQQCFSSLSVND

Bovine                        MEDEKPKVNPKLYMCVCEGLSCGDEAHCEGQQCFSSLSIND

Chicken                       VQDEELKLNE----CVCEGMSCGNGDRCQGQQCFASLSIND

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	21 – 509	Activin receptor type-1
Topological domain	21 – 123	Extracellular

Literature citations
Patterns of somatic mutation in human cancer genomes.
Greenman C.; Stephens P.; Smith R.; Dalgliesh G.L.; Hunter C.; Bignell G.; Davies H.; Teague J.; Butler A.; Stevens C.; Edkins S.; O'Meara S.; Vastrik I.; Schmidt E.E.; Avis T.; Barthorpe S.; Bhamra G.; Buck G.; Choudhury B.; Clements J.; Cole J.; Dicks E.; Forbes S.; Gray K.; Halliday K.; Harrison R.; Hills K.; Hinton J.; Jenkinson A.; Jones D.; Menzies A.; Mironenko T.; Perry J.; Raine K.; Richardson D.; Shepherd R.; Small A.; Tofts C.; Varian J.; Webb T.; West S.; Widaa S.; Yates A.; Cahill D.P.; Louis D.N.; Goldstraw P.; Nicholson A.G.; Brasseur F.; Looijenga L.; Weber B.L.; Chiew Y.-E.; DeFazio A.; Greaves M.F.; Green A.R.; Campbell P.; Birney E.; Easton D.F.; Chenevix-Trench G.; Tan M.-H.; Khoo S.K.; Teh B.T.; Yuen S.T.; Leung S.Y.; Wooster R.; Futreal P.A.; Stratton M.R.;
Nature 446:153-158(2007)
Cited for: VARIANTS [LARGE SCALE ANALYSIS] GLY-15; PHE-41; GLN-47 AND SER-115;

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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q04771: Variant p.Ser41Phe