Sequence information
Variant position: 1249 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:
SAFLRAKEEQQDDTVYMGKV
T FSCAAGFGQRHRLVLTQEQL
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 SAFLRAKEEQQDDTVYMGKVT FSCAAGFGQRHRLVLTQEQL
Mouse SAFLRAKEEQQDDTVYMGKVT FSCAAGLGQRHRLVLTQEQL
Rat SAFLRAKEEQQDDTVYMGKVT FSCAAGLGQRHRLVLTQEQL
Chicken S-------------------- -ACSPPRPS-----------
Xenopus laevis TDFIKAKEEKKEDTVYIGKVT LSCQPGQGQIHKLVLTPEQL
Drosophila VDVKRVLQI------------ --------------------
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
Region
911 – 1278
Interaction with HPS6
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;
The p150 subunit of dynactin (DCTN1) gene in multiple sclerosis.
Muench C.; Meyer R.; Linke P.; Meyer T.; Ludolph A.C.; Haas J.; Hemmer B.;
Acta Neurol. Scand. 116:231-234(2007)
Cited for: VARIANTS VAL-196; GLN-495 AND ILE-1249;
Characterization of DCTN1 genetic variability in neurodegeneration.
Vilarino-Gueell C.; Wider C.; Soto-Ortolaza A.I.; Cobb S.A.; Kachergus J.M.; Keeling B.H.; Dachsel J.C.; Hulihan M.M.; Dickson D.W.; Wszolek Z.K.; Uitti R.J.; Graff-Radford N.R.; Boeve B.F.; Josephs K.A.; Miller B.; Boylan K.B.; Gwinn K.; Adler C.H.; Aasly J.O.; Hentati F.; Destee A.; Krygowska-Wajs A.; Chartier-Harlin M.-C.; Ross O.A.; Rademakers R.; Farrer M.J.;
Neurology 72:2024-2028(2009)
Cited for: VARIANT 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.