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UniProtKB/Swiss-Prot Q9H9S5: Variant p.Arg339His

Ribitol 5-phosphate transferase FKRP
Gene: FKRP
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Variant information Variant position: help 339
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Histidine (H) at position 339 (R339H, p.Arg339His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Variant description: help In MDDGB5.


Sequence information Variant position: help 339
Protein sequence length: help 495
Location on the sequence: help LRALRETARYVVGVLEAAGV R YWLEGGSLLGAARHGDIIPW
Residue conservation: help 
Human                         LRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPW

Mouse                         LRALRETARYVVGVLEAAGVRYWLEGGSLLGAARHGDIIPW
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 495 Ribitol 5-phosphate transferase FKRP
Topological domain 30 – 495 Lumenal
Binding site 345 – 345
Binding site 352 – 352



Literature citations
Mutations in the fukutin-related protein gene (FKRP) cause a form of congenital muscular dystrophy with secondary laminin alpha2 deficiency and abnormal glycosylation of alpha-dystroglycan.
Brockington M.; Blake D.J.; Prandini P.; Brown S.C.; Torelli S.; Benson M.A.; Ponting C.P.; Estournet B.; Romero N.B.; Mercuri E.; Voit T.; Sewry C.A.; Guicheney P.; Muntoni F.;
Am. J. Hum. Genet. 69:1198-1209(2001)
Cited for: NUCLEOTIDE SEQUENCE [MRNA]; TISSUE SPECIFICITY; VARIANTS MDDGB5 GLY-114; THR-217; CYS-309; ARG-316; SER-328; HIS-339; ASN-401; LEU-448 AND SER-465; Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
Mercuri E.; Brockington M.; Straub V.; Quijano-Roy S.; Yuva Y.; Herrmann R.; Brown S.C.; Torelli S.; Dubowitz V.; Blake D.J.; Romero N.B.; Estournet B.; Sewry C.A.; Guicheney P.; Voit T.; Muntoni F.;
Ann. Neurol. 53:537-542(2003)
Cited for: VARIANTS MDDGB5 CYS-309; HIS-339 AND LEU-448; VARIANTS MDDGC5 ILE-276; ASN-307; SER-316; ASN-360 AND SER-462;
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.