Sequence information
Variant position: 571 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1278 The length of the canonical sequence.
Location on the sequence:
ETFDFKIKFAETKAHAKAIE
M ELRQMEVAQANRHMSLLTAF
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 ETFDFKIKFAETKAHAKAIEM ELRQMEVAQANRHMSLLTAF
Mouse ETFDFKIKFAETKAHAKAIEM ELRQMEVAQANRHMSLLTAF
Rat ETFDFKIKFAETKAHAKAIEM ELRQMEVAQANRHMSLLTAF
Chicken EIFDFKIKFAETKAHAKAIEM ELRQMEVQQANRHVSLLTSF
Xenopus laevis EMFDFKIKFAETKAHAKAIEM ELRKMEVTQANRHVSLLTSF
Drosophila ETIDYKQMFAESKAYTRAIDV QLRQIELSQANEHVQMLTAF
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
Chain
1 – 1278
Dynactin subunit 1
Literature citations
Point mutations of the p150 subunit of dynactin (DCTN1) gene in ALS.
Muench C.; Sedlmeier R.; Meyer T.; Homberg V.; Sperfeld A.D.; Kurt A.; Prudlo J.; Peraus G.; Hanemann C.O.; Stumm G.; Ludolph A.C.;
Neurology 63:724-726(2004)
Cited for: INVOLVEMENT IN ALS; VARIANTS ALS THR-571; TRP-785 AND ILE-1249;
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.