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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8TE73: Variant p.Arg1716Leu

Dynein axonemal heavy chain 5
Gene: DNAH5
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Variant information Variant position: help 1716
Type of variant: help LP/P [Disclaimer]
Residue change: help From Arginine (R) to Leucine (L) at position 1716 (R1716L, p.Arg1716Leu).
Physico-chemical properties: help Change from large size and basic (R) to medium size and hydrophobic (L)
BLOSUM score: help -2
Variant description: help In CILD3.
Other resources: help


Sequence information Variant position: help 1716
Protein sequence length: help 4624
Location on the sequence: help LEICQKSLTGYLEKKRLCFP R FFFVSDPALLEILGQASDSH
Residue conservation: help 
Human                         LEICQKSLTGYLEKKRLCFPRFFFVSDPALLEILGQASDSH

Mouse                         LEICQKSLTGYLEKKRLCFPRFFFVSDPALLEILGQASDSH
Sequence annotation in neighborhood: help
TypePositionsDescription
Chain 1 – 4624 Dynein axonemal heavy chain 5
Region 1 – 1941 Stem



Literature citations
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects.
Hornef N.; Olbrich H.; Horvath J.; Zariwala M.A.; Fliegauf M.; Loges N.T.; Wildhaber J.; Noone P.G.; Kennedy M.; Antonarakis S.E.; Blouin J.-L.; Bartoloni L.; Nuesslein T.; Ahrens P.; Griese M.; Kuhl H.; Sudbrak R.; Knowles M.R.; Reinhardt R.; Omran H.;
Am. J. Respir. Crit. Care Med. 174:120-126(2006)
Cited for: VARIANTS CILD3 LEU-1716; ASN-2264; LYS-2347; PRO-2501; SER-2843; SER-3409; LEU-3843 AND VAL-4205; Ciliary beat pattern and frequency in genetic variants of primary ciliary dyskinesia.
Raidt J.; Wallmeier J.; Hjeij R.; Onnebrink J.G.; Pennekamp P.; Loges N.T.; Olbrich H.; Haeffner K.; Dougherty G.W.; Omran H.; Werner C.;
Eur. Respir. J. 44:1579-1588(2014)
Cited for: INVOLVEMENT IN CILD3; VARIANTS CILD3 GLN-1454; LEU-1716; ASN-2264; GLY-2881 AND ASN-3605;
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.