Variant position: 306 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 4646 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 YRIQEKRESPEVLLTLDILK HGKRFHATVSFDTDTGLKQAL
Mouse YRIQEKRESPEVLLTLDILK HGKRFHATVSFDTDTGLKQAL
Rat YRIQEKRESPEVLLTLDILK HGKRFHATVSFDTDTGLKQAL
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
2 – 4646 Cytoplasmic dynein 1 heavy chain 1
53 – 1867 Stem
Exome sequencing identifies a DYNC1H1 mutation in a large pedigree with dominant axonal Charcot-Marie-Tooth disease.
Weedon M.N.; Hastings R.; Caswell R.; Xie W.; Paszkiewicz K.; Antoniadi T.; Williams M.; King C.; Greenhalgh L.; Newbury-Ecob R.; Ellard S.;
Am. J. Hum. Genet. 89:308-312(2011)
Cited for: VARIANT CMT2O ARG-306;
A DYNC1H1 mutation causes a dominant spinal muscular atrophy with lower extremity predominance.
Tsurusaki Y.; Saitoh S.; Tomizawa K.; Sudo A.; Asahina N.; Shiraishi H.; Ito J.I.; Tanaka H.; Doi H.; Saitsu H.; Miyake N.; Matsumoto N.;
Cited for: VARIANT SMALED1 ARG-306;
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