Variant position: 298 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 766 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 EWETTPRIGDILQKLAPFLK MYGEYVKGFDNAMELVKNMTE
Mouse EWETTPRIGDILQKLAPFLK MYGEYVKGFDNAVELVKTMTE
Rat EWETTPRIGDILQKLAPFLK MYGEYVKGFDNAVELVKNMTE
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 – 766 FYVE, RhoGEF and PH domain-containing protein 4
206 – 393 DH
208 – 766 Missing. In isoform 3.
Mutations in FGD4 encoding the Rho GDP/GTP exchange factor FRABIN cause autosomal recessive Charcot-Marie-Tooth type 4H.
Delague V.; Jacquier A.; Hamadouche T.; Poitelon Y.; Baudot C.; Boccaccio I.; Chouery E.; Chaouch M.; Kassouri N.; Jabbour R.; Grid D.; Megarbane A.; Haase G.; Levy N.;
Am. J. Hum. Genet. 81:1-16(2007)
Cited for: INVOLVEMENT IN CMT4H; VARIANTS CMT4H ARG-298 AND THR-298; TISSUE SPECIFICITY; ALTERNATIVE SPLICING;
Peripheral nerve demyelination caused by a mutant Rho GTPase guanine nucleotide exchange factor, frabin/FGD4.
Stendel C.; Roos A.; Deconinck T.; Pereira J.; Castagner F.; Niemann A.; Kirschner J.; Korinthenberg R.; Ketelsen U.-P.; Battaloglu E.; Parman Y.; Nicholson G.; Ouvrier R.; Seeger J.; De Jonghe P.; Weis J.; Kruettgen A.; Rudnik-Schoeneborn S.; Bergmann C.; Suter U.; Zerres K.; Timmerman V.; Relvas J.B.; Senderek J.;
Am. J. Hum. Genet. 81:158-164(2007)
Cited for: INVOLVEMENT IN CMT4H; VARIANT CMT4H ARG-298;
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.