Variant position: 1101 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:
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 VPGPGLVKDSPLLLQQISAM RLHISQLQHENSILKGAQMKA
Mouse LPGPGLVKDSPLLLQQISAM RLHISQLQHENSILRGAQMKA
Rat LPGPGPVKDSPLLLQQISAM RLHISQLQHENSILRGAQMKA
Chicken SAGPVQVKDSPLLLQQIEAL QLSIRHLKNENNRLKGAQMKL
Xenopus laevis GSGPVQVKDSPLLLQQIDAL RLSMKHLKHENNKLKAHQIKT
Drosophila YSAPAGTA--PVVAEEVELL KNAFNQERNQRLRLQAQDMRA
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
1 – 1278 Dynactin subunit 1
911 – 1278 Interaction with HPS6
Heterozygous R1101K mutation of the DCTN1 gene in a family with ALS and FTD.
Muench C.; Rosenbohm A.; Sperfeld A.-D.; Uttner I.; Reske S.; Krause B.J.; Sedlmeier R.; Meyer T.; Hanemann C.O.; Stumm G.; Ludolph A.C.;
Ann. Neurol. 58:777-780(2005)
Cited for: VARIANT ALS LYS-1101;
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