UniProtKB/SwissProt variant VAR

Cilia- and flagella-associated protein 52
Gene: CFAP52
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Variant information Variant position:

271
Type of variant:

LP/P [Disclaimer]
Residue change:

From Glycine (G) to Arginine (R) at position 271 (G271R, p.Gly271Arg).
Physico-chemical properties:

Change from glycine (G) to large size and basic (R)
BLOSUM score:

-2
Variant description:

In HTX10; loss of panaxonemal expression in respiratory cilia.
Other resources:

Variant rs140921334 [ dbSNP | Ensembl ]

Sequence information Variant position:

271
Protein sequence length:

620
Location on the sequence:

LGVSAIRCLKMGGLLVGSGA G LLVFCKSPGYKPIKKIQLQG
Residue conservation:

Human                         LGVSAIRCLKMGGLLVGSGAGLLVFCKSPGYKPIKKIQLQG

Mouse                         LGVSALRCLKMGGLLVGSGAGLLIFCKSPSYKPIKKVQLQG

Pig                           LGVSAIKCLKTGGLLVGSGAGLLVFCRSPSYKPIKKIQLQG

Bovine                        LGVSAICCLKMGGLLVGSGDGLLVFCKSPSYKPIKKIQLQG

Sequence annotation in neighborhood:

Type	Positions	Description
Chain	1 – 620	Cilia- and flagella-associated protein 52

Literature citations
CFAP45 deficiency causes situs abnormalities and asthenospermia by disrupting an axonemal adenine nucleotide homeostasis module.
Dougherty G.W.; Mizuno K.; Noethe-Menchen T.; Ikawa Y.; Boldt K.; Ta-Shma A.; Aprea I.; Minegishi K.; Pang Y.P.; Pennekamp P.; Loges N.T.; Raidt J.; Hjeij R.; Wallmeier J.; Mussaffi H.; Perles Z.; Elpeleg O.; Rabert F.; Shiratori H.; Letteboer S.J.; Horn N.; Young S.; Struenker T.; Stumme F.; Werner C.; Olbrich H.; Takaoka K.; Ide T.; Twan W.K.; Biebach L.; Grosse-Onnebrink J.; Klinkenbusch J.A.; Praveen K.; Bracht D.C.; Hoeben I.M.; Junger K.; Guetzlaff J.; Cindric S.; Aviram M.; Kaiser T.; Memari Y.; Dzeja P.P.; Dworniczak B.; Ueffing M.; Roepman R.; Bartscherer K.; Katsanis N.; Davis E.E.; Amirav I.; Hamada H.; Omran H.;
Nat. Commun. 11:5520-5520(2020)
Cited for: FUNCTION; INTERACTION WITH AK8; CFAP45 AND DNAI1; SUBCELLULAR LOCATION; TISSUE SPECIFICITY; INVOLVEMENT IN HTX10; VARIANT HTX10 ARG-271;

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 Q8N1V2: Variant p.Gly271Arg