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UniProtKB/Swiss-Prot Q13642: Variant p.Cys209Arg

Four and a half LIM domains protein 1
Gene: FHL1
Variant information

Variant position:  209
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Cysteine (C) to Arginine (R) at position 209 (C209R, p.Cys209Arg).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from medium size and polar (C) to large size and basic (R)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -3
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Variant description:  In EDMD6.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  209
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:   VTCSKKLAGQRFTAVEDQYY  C VDCYKNFVAKKCAGCKNPIT
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                         VTCSKK---------LAGQRFTAVEDQYYCVDCYKNFVAKKCA-------------------------------GCKNPIT

Mouse                         VTCSKK---------LAGQRFTAVEDQYYCVDCYKNFVAKK

Rat                           VTCSKK---------LAGQRFTAVEDQYYCVDCYKNFVAKK

Baker's yeast                 LTRDRKGLSKQVIAAILTQALAMTINQVTQAAKNKGITGNP

Fission yeast                 MRDGKLALNPEFFKNANGEQQAPNEQAVQAISLLQQHINKQ

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.

TypePositionsDescription
Chain 2 – 323 Four and a half LIM domains protein 1
Domain 162 – 212 LIM zinc-binding 3
Alternative sequence 168 – 296 Missing. In isoform 3.
Beta strand 207 – 209


Literature citations

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;

Contractures and hypertrophic cardiomyopathy in a novel FHL1 mutation.
Knoblauch H.; Geier C.; Adams S.; Budde B.; Rudolph A.; Zacharias U.; Schulz-Menger J.; Spuler A.; Yaou R.B.; Nuernberg P.; Voit T.; Bonne G.; Spuler S.;
Ann. Neurol. 67:136-140(2010)
Cited for: VARIANT EDMD6 ARG-209;

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.