UniProtKB/SwissProt variant VAR

Cytoplasmic dynein 1 heavy chain 1
Gene: DYNC1H1
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Variant information Variant position:

4421
Type of variant:

LB/B
Residue change:

From Alanine (A) to Threonine (T) at position 4421 (A4421T, p.Ala4421Thr).
Physico-chemical properties:

Change from small size and hydrophobic (A) to medium size and polar (T)
BLOSUM score:

0
Other resources:

Variant rs376492799 [ dbSNP | Ensembl ]

Sequence information Variant position:

4421
Protein sequence length:

4646
Location on the sequence:

TVENIKDPLFRFFEREVKMG A KLLQDVRQDLADVVQVCEGK
Residue conservation:

Human                         TVENIKDPLFRFFEREVKMGAKLLQDVRQDLADVVQVCEGK

Mouse                         TVENIKDPLFRFFEREVKMGAKLLQDVRQDLADVVQVCEGK

Rat                           TVENIKDPLFRFFEREVKMGAKLLQDVRQDLADVVQVCEGK

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	2 – 4646	Cytoplasmic dynein 1 heavy chain 1
Helix	4408 – 4438

Literature citations
Diagnostic exome sequencing in persons with severe intellectual disability.
de Ligt J.; Willemsen M.H.; van Bon B.W.; Kleefstra T.; Yntema H.G.; Kroes T.; Vulto-van Silfhout A.T.; Koolen D.A.; de Vries P.; Gilissen C.; del Rosario M.; Hoischen A.; Scheffer H.; de Vries B.B.; Brunner H.G.; Veltman J.A.; Vissers L.E.;
N. Engl. J. Med. 367:1921-1929(2012)
Cited for: VARIANT CDCBM13 LYS-1518; VARIANTS ALA-142; LEU-1250; MET-2247; CYS-4143; SER-4285; THR-4421; SER-4507 AND GLY-4603;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q14204: Variant p.Ala4421Thr