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UniProtKB/Swiss-Prot Q14204: Variant p.Lys3241Thr

Cytoplasmic dynein 1 heavy chain 1
Gene: DYNC1H1
Variant information

Variant position:  3241
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  Disease [Disclaimer]
The variants are classified into three categories: Disease, Polymorphism and Unclassified.
  • Disease: Variants implicated in disease according to literature reports.
  • Polymorphism: Variants not reported to be implicated in disease.
  • Unclassified: Variants with uncertain implication in disease according to literature reports. Evidence against or in favor of a pathogenic role is limited and/or conflicting.

Residue change:  From Lysine (K) to Threonine (T) at position 3241 (K3241T, p.Lys3241Thr).
Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.

Physico-chemical properties:  Change from large size and basic (K) to medium size and polar (T)
The physico-chemical property of the reference and variant residues and the change implicated.

BLOSUM score:  -1
The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:
  • Lowest score: -4 (low probability of substitution).
  • Highest score: 11 (high probability of substitution).
More information can be found on the following page

Involvement in disease:  Mental retardation, autosomal dominant 13 (MRD13) [MIM:614563]: A disorder characterized by significantly below average general intellectual functioning associated with impairments in adaptive behavior and manifested during the developmental period. MRD13 is associated with variable neuronal migration defects and mild dysmorphic features. Some patients may also show signs of peripheral neuropathy, such as abnormal gait and hyporeflexia. {ECO:0000269|PubMed:21076407, ECO:0000269|PubMed:22368300, ECO:0000269|PubMed:23033978, ECO:0000269|PubMed:23603762, ECO:0000269|PubMed:28193117}. Note=The disease is caused by mutations affecting the gene represented in this entry.
The name and a short description of the disease associated with the variant. For more information about the disease, the user can refer to OMIM, following the link provided after the disease acronym.

Variant description:  In MRD13.
Any additional useful information about the variant.

Sequence information

Variant position:  3241
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  4646
The length of the canonical 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.




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.

Chain 2 – 4646 Cytoplasmic dynein 1 heavy chain 1
Region 3189 – 3500 Stalk
Coiled coil 3189 – 3275

Literature citations

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;

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.