Sequence information
Variant position: 71 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:
LFATGKWVGVILDEAKGKND
G TVQGRKYFTCDEGHGIFVRQ
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 LFATGKWVGVILDEAKGKNDG TVQGRKYFTCDEGHGIFVRQ
Mouse LFATGKWVGVILDEAKGKNDG TVQGRKYFTCDEGHGIFVRQ
Rat LFATGKWVGVILDEAKGKNDG TVQGRKYFTCDEGHGIFVRQ
Chicken LXATGKWVGVILDEAKGKNDG TVQGRKYFTCEENHGIFVRQ
Xenopus laevis LFATGKWVGVILDDSKGKNDG TVQGRRYFTCEENHGIFVRQ
Drosophila SFAVGKWVGVVLDEPKGKNSG SIKGQQYFQCDENCGMFVRP
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
Domain
48 – 90
CAP-Gly
Alternative sequence
1 – 138
MAQSKRHVYSRTPSGSRMSAEASARPLRVGSRVEVIGKGHRGTVAYVGATLFATGKWVGVILDEAKGKNDGTVQGRKYFTCDEGHGIFVRQSQIQVFEDGADTTSPETPDSSASKVLKREGTDTTAKTSKLRGLKPKK -> MMRQ. In isoform p135 and isoform 5.
Mutagenesis
68 – 68
K -> A. Abolishes interaction with CLIP1.
Mutagenesis
90 – 90
R -> E. Abolishes interaction with CLIP1.
Beta strand
67 – 73
Literature citations
DCTN1 mutations in Perry syndrome.
Farrer M.J.; Hulihan M.M.; Kachergus J.M.; Daechsel J.C.; Stoessl A.J.; Grantier L.L.; Calne S.; Calne D.B.; Lechevalier B.; Chapon F.; Tsuboi Y.; Yamada T.; Gutmann L.; Elibol B.; Bhatia K.P.; Wider C.; Vilarino-Gueell C.; Ross O.A.; Brown L.A.; Castanedes-Casey M.; Dickson D.W.; Wszolek Z.K.;
Nat. Genet. 41:163-165(2009)
Cited for: VARIANTS PERRYS ARG-71; GLU-71; ALA-71; PRO-72 AND PRO-74; CHARACTERIZATION OF VARIANTS PERRYS ARG-71 AND PRO-74; CHARACTERIZATION OF VARIANT HMN7B SER-59;
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.