Sequence information
Variant position: 52 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:
RVEVIGKGHRGTVAYVGATL
F ATGKWVGVILDEAKGKNDGT
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 RVEVIGKGHRGTVAYVGATLF ATGKWVGVILDEAKGKNDGT
Mouse RVEVIGKGHRGTVAYVGATLF ATGKWVGVILDEAKGKNDGT
Rat RVEVIGKGHRGTVAYVGATLF ATGKWVGVILDEAKGKNDGT
Chicken RVEVIGKGHRGTVAYVGATLX ATGKWVGVILDEAKGKNDGT
Xenopus laevis RVEVIGKGYRGTVAYVGATLF ATGKWVGVILDDSKGKNDGT
Drosophila RVELTGKDLLGTVAYVGMTSF AVGKWVGVVLDEPKGKNSGS
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.
Beta strand
51 – 55
Literature citations
A Novel DCTN1 mutation with late-onset parkinsonism and frontotemporal atrophy.
Araki E.; Tsuboi Y.; Daechsel J.; Milnerwood A.; Vilarino-Guell C.; Fujii N.; Mishima T.; Oka T.; Hara H.; Fukae J.; Farrer M.J.;
Mov. Disord. 29:1201-1204(2014)
Cited for: VARIANT PERRYS LEU-52;
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.