UniProtKB/SwissProt variant VAR

Ryanodine receptor 1
Gene: RYR1
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Variant information Variant position:

402
Type of variant:

LP/P [Disclaimer]
Residue change:

From Methionine (M) to Threonine (T) at position 402 (M402T, p.Met402Thr).
Physico-chemical properties:

Change from medium size and hydrophobic (M) to medium size and polar (T)
BLOSUM score:

-1
Variant description:

In CMYO1B.
Other resources:

Variant rs118192117 [ dbSNP | Ensembl ]

Sequence information Variant position:

402
Protein sequence length:

5038
Location on the sequence:

HMDDALSLTRCQQEESQAAR M IHSTNGLYNQFIKSLDSFSG
Residue conservation:

Human                         HMDDALSLTRCQQEESQAARMIHSTNGLYNQFIKSLDSFSG

Mouse                         HMDDALSLTRCQQEESQAARMIYSTAGLYNQFIKGLDSFSG

Rat                           HMDDALSLTRCQQEESQAARMIYSTAGLYNQFIKGLDSFSG

Pig                           HMDDALSLTRCQQEESQAARMIYSTAGLYNHFIKGLDSFSG

Rabbit                        HMDDALFLTRCQQEESQAARMIHSTAGLYNQFIKGLDSFSG

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 5038	Ryanodine receptor 1
Topological domain	1 – 4559	Cytoplasmic

Literature citations
Recessive mutations in RYR1 are a common cause of congenital fiber type disproportion.
Clarke N.F.; Waddell L.B.; Cooper S.T.; Perry M.; Smith R.L.L.; Kornberg A.J.; Muntoni F.; Lillis S.; Straub V.; Bushby K.; Guglieri M.; King M.D.; Farrell M.A.; Marty I.; Lunardi J.; Monnier N.; North K.N.;
Hum. Mutat. 31:E1544-E1550(2010)
Cited for: VARIANTS CMYO1B THR-402; LEU-2035; LYS-3326 AND GLY-3402;

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 P21817: Variant p.Met402Thr