Variant position: 448 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 495 The length of the canonical sequence.
Location on the sequence:
The residue change on the sequence. Unless the variant is located at the beginning or at the end of the protein sequence, both residues upstream (20) and downstream (20) of the variant will be shown.
Residue conservation: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human TKDTWLDHRQDVEFPEHFLQ PLVPLPFAGFVAQAPNNYRRF
Mouse TKDTWLDHRQDVEFPEHFLQ PLVPLPFAGFMAQAPNNYRRF
Sequence annotation in neighborhood: The regions or sites of interest surrounding the variant. In general the features listed are posttranslational modifications, binding sites, enzyme active sites, local secondary structure or other characteristics reported in the cited references. The "Sequence annotation in neighborhood" lines have a fixed format:
Type: the type of sequence feature. Positions: endpoints of the sequence feature. Description: contains additional information about the feature.
Type Positions Description
1 – 495 Fukutin-related protein
30 – 495 Lumenal
447 – 454
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;
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
Keramaris-Vrantsis E.; Lu P.J.; Doran T.; Zillmer A.; Ashar J.; Esapa C.T.; Benson M.A.; Blake D.J.; Rosenfeld J.; Lu Q.L.;
Muscle Nerve 36:455-465(2007)
Cited for: SUBCELLULAR LOCATION; CHARACTERIZATION OF VARIANTS ILE-276 AND LEU-448;
Mutations alter secretion of fukutin-related protein.
Lu P.J.; Zillmer A.; Wu X.; Lochmuller H.; Vachris J.; Blake D.; Chan Y.M.; Lu Q.L.;
Biochim. Biophys. Acta 1802:253-258(2010)
Cited for: SUBCELLULAR LOCATION; GLYCOSYLATION; CHARACTERIZATION OF VARIANTS ILE-276 AND LEU-448;
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;
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.