UniProtKB/SwissProt variant VAR

Muscle, skeletal receptor tyrosine-protein kinase
Gene: MUSK
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Variant information Variant position:

858
Type of variant:

LB/B
Residue change:

From Arginine (R) to Histidine (H) at position 858 (R858H, p.Arg858His).
Physico-chemical properties:

Change from large size and basic (R) to medium size and polar (H)
BLOSUM score:

0
Other resources:

Variant rs34115159 [ dbSNP | Ensembl ]

Sequence information Variant position:

858
Protein sequence length:

869
Location on the sequence:

CWSKLPADRPSFTSIHRILE R MCERAEGTVSV
Residue conservation:

Human                         CWSKLPADRPSFTSIHRILERMCERAEGTVSV

Mouse                         CWSKLPADRPSFCSIHRILQRMCERAEGTVGV

Rat                           CWSKLPADRPSFCSIHRILQRMCERAEGTVGV

Chicken                       CWSKLPADRPSFASIHRILERMYERAVASPQV

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	24 – 869	Muscle, skeletal receptor tyrosine-protein kinase
Topological domain	517 – 869	Cytoplasmic

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-27; MET-100; GLU-107; GLY-159; SER-222; ILE-413; PHE-629; ALA-644; SER-664; LEU-696; ASP-782; SER-819; LEU-829 AND HIS-858;

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 O15146: Variant p.Arg858His