Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q8N136: Variant p.Ser364Thr

Dynein assembly factor with WD repeat domains 1
Gene: DAW1
Feedback?
Variant information Variant position: help 364 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Serine (S) to Threonine (T) at position 364 (S364T, p.Ser364Thr). 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: help Change from small size and polar (S) to medium size and polar (T) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 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: help In CILD52; likely pathogenic; loss-of-function variant unable to rescue ciliary motility defects and cardiac looping abnormalities when expressed in daw-deficient zebrafish; decreased protein stability. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 364 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 415 The length of the canonical sequence.
Location on the sequence: help HEGEISKISFNPQGNHLLTG S SDKTARIWDAQTGQCLQVLE 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         HEGEISKISFNPQGNHLLTGSSDKTARIWDAQTGQCLQVLE

Mouse                         HEGEISKISFNPQGNRLLTGSSDKTARIWDVQTGQCLQVLE

Rat                           HEGEISKISFNPQGNRLLTGSSDKTARIWDVQTGQCLQVLE

Bovine                        HEGEISKISFNPQGNRLLTGSSDKTARIWDAQTGQCLQVLE

Xenopus laevis                HEGEISKICFNAQGNRIVTASSDKTSRLWDPHTGECLQVLK

Xenopus tropicalis            HEGEISKICFNAQGNRILTASSDKTSRLWNPHTGECLQVLK

Zebrafish                     HKGEISKVCFNAQGSRVLTASVDKTSRVWCVKTGACLQVLE
Sequence annotation in neighborhood: help 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 – 415 Dynein assembly factor with WD repeat domains 1
Repeat 343 – 384 WD 7
Alternative sequence 325 – 369 GTARIFSAATRKCIAKLEGHEGEISKISFNPQGNHLLTGSSDKTA -> DGVSLCRPGRSAVARSWLTATCASQVQAILLPQPPELCHVLGNHV. In isoform 2.
Beta strand 357 – 364



Literature citations
Contribution of rare inherited and de novo variants in 2,871 congenital heart disease probands.
Jin S.C.; Homsy J.; Zaidi S.; Lu Q.; Morton S.; DePalma S.R.; Zeng X.; Qi H.; Chang W.; Sierant M.C.; Hung W.C.; Haider S.; Zhang J.; Knight J.; Bjornson R.D.; Castaldi C.; Tikhonoa I.R.; Bilguvar K.; Mane S.M.; Sanders S.J.; Mital S.; Russell M.W.; Gaynor J.W.; Deanfield J.; Giardini A.; Porter G.A. Jr.; Srivastava D.; Lo C.W.; Shen Y.; Watkins W.S.; Yandell M.; Yost H.J.; Tristani-Firouzi M.; Newburger J.W.; Roberts A.E.; Kim R.; Zhao H.; Kaltman J.R.; Goldmuntz E.; Chung W.K.; Seidman J.G.; Gelb B.D.; Seidman C.E.; Lifton R.P.; Brueckner M.;
Nat. Genet. 49:1593-1601(2017)
Cited for: VARIANTS CILD52 66-LEU--ARG-415 DEL; THR-364 AND CYS-372; INVOLVEMENT IN CILD52;
Biallelic DAW1 variants cause a motile ciliopathy characterized by laterality defects and subtle ciliary beating abnormalities.
Leslie J.S.; Hjeij R.; Vivante A.; Bearce E.A.; Dyer L.; Wang J.; Rawlins L.; Kennedy J.; Ubeyratna N.; Fasham J.; Irons Z.H.; Craig S.B.; Koenig J.; George S.; Pode-Shakked B.; Bolkier Y.; Barel O.; Mane S.; Frederiksen K.K.; Wenger O.; Scott E.; Cross H.E.; Lorentzen E.; Norris D.P.; Anikster Y.; Omran H.; Grimes D.T.; Crosby A.H.; Baple E.L.;
Genet. Med. 24:2249-2261(2022)
Cited for: VARIANTS CILD52 119-TRP--ARG-415 DEL AND ASP-143; CHARACTERIZATION OF VARIANTS CILD52 119-TRP--ARG-415 DEL; ASP-143; THR-364 AND CYS-372; INVOLVEMENT IN CILD52; FUNCTION;
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.