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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Ala4940Thr

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 4940
Type of variant: help LP/P [Disclaimer]
Residue change: help From Alanine (A) to Threonine (T) at position 4940 (A4940T, p.Ala4940Thr).
Physico-chemical properties: help Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score: help 0
Variant description: help In CMYO1A.
Other resources: help


Sequence information Variant position: help 4940
Protein sequence length: help 5038
Location on the sequence: help TFFFFVIVILLAIIQGLIID A FGELRDQQEQVKEDMETKCF
Residue conservation: help 
Human                         TFFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCF

Mouse                         TFFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCF

Rat                           TFFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCF

Pig                           TFFFFVIVILLAIIQGLIIDAFGELRDQQEQVREDMETKCF

Rabbit                        TFFFFVIVILLAIIQGLIIDAFGELRDQQEQVKEDMETKCF
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 5038 Ryanodine receptor 1
Transmembrane 4921 – 4941 Helical; Name=6



Literature citations
Central core disease: clinical, pathological, and genetic features.
Quinlivan R.M.; Muller C.R.; Davis M.; Laing N.G.; Evans G.A.; Dwyer J.; Dove J.; Roberts A.P.; Sewry C.A.;
Arch. Dis. Child. 88:1051-1055(2003)
Cited for: VARIANTS CMYO1A HIS-4861; CYS-4864; TRP-4893 AND THR-4940; Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.
Davis M.R.; Haan E.; Jungbluth H.; Sewry C.; North K.; Muntoni F.; Kuntzer T.; Lamont P.; Bankier A.; Tomlinson P.; Sanchez A.; Walsh P.; Nagarajan L.; Oley C.; Colley A.; Gedeon A.; Quinlivan R.; Dixon J.; James D.; Mueller C.R.; Laing N.G.;
Neuromuscul. Disord. 13:151-157(2003)
Cited for: VARIANT CORE/ROD DISEASE ILE-4637; VARIANTS CMYO1A ASP-4638; PRO-4651; CYS-4861; HIS-4861; GLN-4893; THR-4898; GLY-4914; THR-4914; 4927-VAL-ILE-4928 DEL AND THR-4940;
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.