Sequence information
Variant position: 74 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:
TGKWVGVILDEAKGKNDGTV
Q GRKYFTCDEGHGIFVRQSQI
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 TGKWVGVILDEAKGKNDGTVQ GRKYFTCDEGHGIFVRQSQI
Mouse TGKWVGVILDEAKGKNDGTVQ GRKYFTCDEGHGIFVRQSQI
Rat TGKWVGVILDEAKGKNDGTVQ GRKYFTCDEGHGIFVRQSQI
Chicken TGKWVGVILDEAKGKNDGTVQ GRKYFTCEENHGIFVRQSQI
Xenopus laevis TGKWVGVILDDSKGKNDGTVQ GRRYFTCEENHGIFVRQSQI
Drosophila VGKWVGVVLDEPKGKNSGSIK GQQYFQCDENCGMFVRPTQL
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.
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;
Dynactin subunit p150(Glued) is a neuron-specific anti-catastrophe factor.
Lazarus J.E.; Moughamian A.J.; Tokito M.K.; Holzbaur E.L.;
PLoS Biol. 11:E1001611-E1001611(2013)
Cited for: CHARACTERIZATION OF VARIANT PERRYS PRO-74; FUNCTION; SUBUNIT; INTERACTION WITH MAPRE1;
Dynactin functions as both a dynamic tether and brake during dynein-driven motility.
Ayloo S.; Lazarus J.E.; Dodda A.; Tokito M.; Ostap E.M.; Holzbaur E.L.;
Nat. Commun. 5:4807-4807(2014)
Cited for: CHARACTERIZATION OF VARIANTS PERRYS ARG-71 AND PRO-74; FUNCTION; INTERACTION WITH DYNEIN INTERMEDIATE CHAIN AND DYNEIN HEAVY CHAIN; DOMAIN CAP-GLY;
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.