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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q12756: Variant p.Arg355His

Kinesin-like protein KIF1A
Gene: KIF1A
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Variant information Variant position: help 355
Type of variant: help LB/B
Residue change: help From Arginine (R) to Histidine (H) at position 355 (R355H, p.Arg355His).
Physico-chemical properties: help Change from large size and basic (R) to medium size and polar (H)
BLOSUM score: help 0
Other resources: help


Sequence information Variant position: help 355
Protein sequence length: help 1690
Location on the sequence: help DINYDETLSTLRYADRAKQI R CNAVINEDPNNKLIRELKDE
Residue conservation: help 
Human                         DINYDETLSTLRYADRAKQIRCNAVINEDPNNKLIRELKDE

Mouse                         DINYDETLSTLRYADRAKQIRCNAIINEDPNNKLIRELKDE

Rat                           DINYDETLSTLRYADRAKQIRCNAIINEDPNNKLIRELKDE

Drosophila                    DINYDETLSTLRYADRAKQIVCKAVVNEDANAKLIRELKEE
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 1690 Kinesin-like protein KIF1A



Literature citations
De novo mutations in KIF1A cause progressive encephalopathy and brain atrophy.
Esmaeeli Nieh S.; Madou M.R.; Sirajuddin M.; Fregeau B.; McKnight D.; Lexa K.; Strober J.; Spaeth C.; Hallinan B.E.; Smaoui N.; Pappas J.G.; Burrow T.A.; McDonald M.T.; Latibashvili M.; Leshinsky-Silver E.; Lev D.; Blumkin L.; Vale R.D.; Barkovich A.J.; Sherr E.H.;
Ann. Clin. Transl. Neurol. 2:623-635(2015)
Cited for: VARIANTS MET-46; ASN-136; ILE-187; MET-205; ILE-220; ASP-233; VAL-336 AND HIS-355; VARIANTS NESCAVS MET-99; CYS-216; HIS-216; LYS-253 AND TRP-316; CHARACTERIZATION OF VARIANTS NESCAVS MET-99; CYS-216 AND LYS-253; CHARACTERIZATION OF VARIANT SPG30B VAL-255; CHARACTERIZATION OF VARIANT ILE-220;
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.