Sequence information
Variant position: 357 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 470 The length of the canonical sequence.
Location on the sequence:
ALKGTNDSLMRQMRELEDRF
A SEASGYQDNIARLEEEIRHL
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 ALKGTNDSLMRQMRELEDRFA SEASGYQDNIARLEEEIRHL
Mouse ALKGTNDSLMRQMRELEDRFA SEANGYQDNIARLEEEIRHL
Rat ALKGTNDSLMRQMRELEDRFA SEASGYQDNIARLEEEIRHL
Pig ALKGTNDSLMRQMRELEDRFA SEASGYQDNIARLEEEIRHL
Bovine ALKGTNDSLMRQMRELEDRFA SEASGYQDNIARLEEEIRHL
Chicken ALKGTNDSLMRQMREMEERFA GEAGGYQDTIARLEEEIRHL
Xenopus laevis ALKGTNDSLMRQMRDLEEKFS GEAAGYQDTIGRLEEEIRNM
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.
Literature citations
Small deletions disturb desmin architecture leading to breakdown of muscle cells and development of skeletal or cardioskeletal myopathy.
Kaminska A.; Strelkov S.V.; Goudeau B.; Olive M.; Dagvadorj A.; Fidzianska A.; Simon-Casteras M.; Shatunov A.; Dalakas M.C.; Ferrer I.; Kwiecinski H.; Vicart P.; Goldfarb L.G.;
Hum. Genet. 114:306-313(2004)
Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA]; VARIANTS MFM1 ASP-342; PRO-357; 359-GLU--SER-361 DEL; ASN-366 DEL AND PRO-370; VARIANT VAL-213;
Myotubularin controls desmin intermediate filament architecture and mitochondrial dynamics in human and mouse skeletal muscle.
Hnia K.; Tronchere H.; Tomczak K.K.; Amoasii L.; Schultz P.; Beggs A.H.; Payrastre B.; Mandel J.L.; Laporte J.;
J. Clin. Invest. 121:70-85(2011)
Cited for: INTERACTION WITH MTM1; CHARACTERIZATION OF VARIANTS ASP-342; PRO-357; PRO-360 AND PRO-370; SUBUNIT;
Respiratory insufficiency in desminopathy patients caused by introduction of proline residues in desmin C-terminal alpha-helical segment.
Dagvadorj A.; Goudeau B.; Hilton-Jones D.; Blancato J.K.; Shatunov A.; Simon-Casteras M.; Squier W.; Nagle J.W.; Goldfarb L.G.; Vicart P.;
Muscle Nerve 27:669-675(2003)
Cited for: VARIANTS MFM1 PRO-357 AND PRO-370; CHARACTERIZATION OF VARIANTS MFM1 PRO-357 AND PRO-370;
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.