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UniProtKB/Swiss-Prot Q8NCM8: Variant p.Ile1240Thr

Cytoplasmic dynein 2 heavy chain 1
Gene: DYNC2H1
Variant information

Variant position:  1240
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Type of variant:  LP/P [Disclaimer]
The variants are classified into three categories: LP/P, LB/B and US.
  • LP/P: likely pathogenic or pathogenic.
  • LB/B: likely benign or benign.
  • US: uncertain significance

Residue change:  From Isoleucine (I) to Threonine (T) at position 1240 (I1240T, p.Ile1240Thr).
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 medium size and hydrophobic (I) 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

Variant description:  In SRTD3.
Any additional useful information about the variant.

Other resources:  
Links to websites of interest for the variant.



Sequence information

Variant position:  1240
The position of the amino-acid change on the UniProtKB canonical protein sequence.

Protein sequence length:  4307
The length of the canonical sequence.

Location on the sequence:   PRGTSLEKLLFGDLLRVADT  I VAKAADLKDLNSRAQGEVTI
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                         PRGTSLEKLLFGDLLRVADTIVAKAADLKDLNSRAQGEVTI

Mouse                         PRGTSLEKLLFGDLLRVADTIVEKASELKDLNSRAQGEVTI

Rat                           PRGTSLEKLLFGDLLRVADTIVEKASDLKDLNSRAQGEVTI

Caenorhabditis elegans        PRGTTIEKLKFADLLSVSKNIIENTDQLKQLNSRAQGEVAI

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.

TypePositionsDescription
Chain 1 – 4307 Cytoplasmic dynein 2 heavy chain 1
Region 1 – 1650 Stem
Alternative sequence 736 – 4122 Missing. In isoform 3.


Literature citations

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.
Dagoneau N.; Goulet M.; Genevieve D.; Sznajer Y.; Martinovic J.; Smithson S.; Huber C.; Baujat G.; Flori E.; Tecco L.; Cavalcanti D.; Delezoide A.-L.; Serre V.; Le Merrer M.; Munnich A.; Cormier-Daire V.;
Am. J. Hum. Genet. 84:706-711(2009)
Cited for: VARIANTS SRTD3 THR-1240; ALA-1987; LEU-1991; VAL-2461; GLY-3015 AND VAL-3762;

Exome sequencing identifies DYNC2H1 mutations as a common cause of asphyxiating thoracic dystrophy (Jeune syndrome) without major polydactyly, renal or retinal involvement.
Schmidts M.; Arts H.H.; Bongers E.M.; Yap Z.; Oud M.M.; Antony D.; Duijkers L.; Emes R.D.; Stalker J.; Yntema J.B.; Plagnol V.; Hoischen A.; Gilissen C.; Forsythe E.; Lausch E.; Veltman J.A.; Roeleveld N.; Superti-Furga A.; Kutkowska-Kazmierczak A.; Kamsteeg E.J.; Elcioglu N.; van Maarle M.C.; Graul-Neumann L.M.; Devriendt K.; Smithson S.F.; Wellesley D.; Verbeek N.E.; Hennekam R.C.; Kayserili H.; Scambler P.J.; Beales P.L.; Knoers N.V.; Roepman R.; Mitchison H.M.;
J. Med. Genet. 50:309-323(2013)
Cited for: VARIANTS SRTD3 CYS-330; PRO-871; ILE-1228; THR-1240; VAL-1379; ASP-1442; LYS-1991; VAL-2227; THR-2304; SER-2362; GLN-2481; TRP-2532; MET-2555; CYS-2573; THR-2640; MET-2819; GLY-3015; LEU-3381; CYS-3806; GLY-3847 AND ARG-4232;

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.