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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot P21817: Variant p.Leu4650Pro

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position: help 4650
Type of variant: help LP/P [Disclaimer]
Residue change: help From Leucine (L) to Proline (P) at position 4650 (L4650P, p.Leu4650Pro).
Physico-chemical properties: help Similar physico-chemical property. Both residues are medium size and hydrophobic.
BLOSUM score: help -3
Variant description: help In CMYO1B.
Other resources: help


Sequence information Variant position: help 4650
Protein sequence length: help 5038
Location on the sequence: help YYFLEESTGYMEPALRCLSL L HTLVAFLCIIGYNCLKVPLV
Residue conservation: help 
Human                         YYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLV

Mouse                         YYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLV

Rat                           YYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLV

Pig                           YYFLEESTGYMEPALRCLSLLHTLVAFLCIIGYNCLKVPLV

Rabbit                        YYFLEESTGYMEPALWCLSLLHTLVAFLCIIGYNCLKVPLV
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 5038 Ryanodine receptor 1
Transmembrane 4642 – 4662 Helical; Name=2



Literature citations
Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.
Romero N.B.; Monnier N.; Viollet L.; Cortey A.; Chevallay M.; Leroy J.P.; Lunardi J.; Fardeau M.;
Brain 126:2341-2349(2003)
Cited for: VARIANTS CMYO1A CYS-614 AND GLU-4899; VARIANTS CMYO1B GLU-215; PRO-4650 AND GLN-4724;
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.