Variant position: 276 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 323 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 PLTLFPSANLRGR--HPGGE--RT CPSWVVVLYRKNRS-------LAAPRGP
Mouse SVNL---ANKRFV--FHNEQ--VY CPDCAKKL---------
Rat SVNL---ANKRFV--FHNEQ--VY CPDCAKKL---------
Baker's yeast PSQLSASASSHPNNYLHDKQPGSF DPSSLSRFFQPRQNARA
Fission yeast SPSPSISVTQRPA--VNVGPPPYV RPSAPSKLPDTRQS---
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
2 – 323 Four and a half LIM domains protein 1
168 – 296 Missing. In isoform 3.
231 – 323 KRTVSRVSHPVSKARKPPVCHGKRLPLTLFPSANLRGRHPGGERTCPSWVVVLYRKNRSLAAPRGPGLVKAPVWWPMKDNPGTTTASTAKNAP -> FGKGSSVVAYEGQSWHDYCFHCKKCSVNLANKRFVFHQEQVYCPDCAKKL. In isoform 1, isoform 4 and isoform 5.
Mutations of the FHL1 gene cause Emery-Dreifuss muscular dystrophy.
Gueneau L.; Bertrand A.T.; Jais J.P.; Salih M.A.; Stojkovic T.; Wehnert M.; Hoeltzenbein M.; Spuler S.; Saitoh S.; Verschueren A.; Tranchant C.; Beuvin M.; Lacene E.; Romero N.B.; Heath S.; Zelenika D.; Voit T.; Eymard B.; Ben Yaou R.; Bonne G.;
Am. J. Hum. Genet. 85:338-353(2009)
Cited for: VARIANTS EDMD6 ARG-209 AND TYR-276; CHARACTERIZATION OF VARIANT EDMD6 TYR-276;
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.