Variant position: 224 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 EDQYYCVDCYKNFVAKKCA-------------------------------G CKNPITGKRTVSRVSHPVSKA
Baker's yeast INQVTQAAKNKGITGNPLTALMDKNPQHLNLILAAAVNAAT
Fission yeast EQAVQAISLLQQHINKQLGPAAANNPEQATAIANALAVALA
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.
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1.
Windpassinger C.; Schoser B.; Straub V.; Hochmeister S.; Noor A.; Lohberger B.; Farra N.; Petek E.; Schwarzbraun T.; Ofner L.; Loescher W.N.; Wagner K.; Lochmueller H.; Vincent J.B.; Quasthoff S.;
Am. J. Hum. Genet. 82:88-99(2008)
Cited for: VARIANTS XMPMA ILE-128 INS AND TRP-224;
Consequences of mutations within the C terminus of the FHL1 gene.
Schoser B.; Goebel H.H.; Janisch I.; Quasthoff S.; Rother J.; Bergmann M.; Mueller-Felber W.; Windpassinger C.;
Cited for: VARIANTS XMPMA TRP-224 AND MET-280; VARIANT XMPMA TYR-246 (ISOFORM 1); VARIANT ASN-275 (ISOFORM 1);
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