Variant position: 3384 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 REKMKKNYMSNPSYNYEIVN RASLACGPMVKWAIAQLNYAD
Mouse REKMKKNYMSNPSYNYEIVN RASLACGPMVKWAIAQLNYAD
Rat REKMKKNYMSNPSYNYEIVN RASLACGPMVKWAIAQLNYAD
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
3189 – 3500 Stalk
Mutations in TUBG1, DYNC1H1, KIF5C and KIF2A cause malformations of cortical development and microcephaly.
Poirier K.; Lebrun N.; Broix L.; Tian G.; Saillour Y.; Boscheron C.; Parrini E.; Valence S.; Pierre B.S.; Oger M.; Lacombe D.; Genevieve D.; Fontana E.; Darra F.; Cances C.; Barth M.; Bonneau D.; Bernadina B.D.; N'guyen S.; Gitiaux C.; Parent P.; des Portes V.; Pedespan J.M.; Legrez V.; Castelnau-Ptakine L.; Nitschke P.; Hieu T.; Masson C.; Zelenika D.; Andrieux A.; Francis F.; Guerrini R.; Cowan N.J.; Bahi-Buisson N.; Chelly J.;
Nat. Genet. 45:639-647(2013)
Cited for: VARIANTS MRD13 ILE-129; 659-THR--MET-662 DEL; GLN-1567; CYS-1962; THR-3241; ASN-3336; GLN-3344 AND GLN-3384; CHARACTERIZATION OF VARIANTS MRD13 ASN-3336 AND GLN-3384;
Exome Sequencing Identifies De Novo DYNC1H1 Mutations Associated With Distal Spinal Muscular Atrophy and Malformations of Cortical Development.
Chen Y.; Xu Y.; Li G.; Li N.; Yu T.; Yao R.E.; Wang X.; Shen Y.; Wang J.;
J. Child Neurol. 32:379-386(2017)
Cited for: VARIANT SMALED1 GLU-1132; VARIANT MRD13 GLN-3384;
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