Variant position: 154 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 242 The length of the canonical sequence.
Location on the sequence:
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: The multiple alignment of the region surrounding the variant against various orthologous sequences.
Human LFQTDVGFGLLGELLVALAD HVGPADRAAVLGILCSLASTG
Mouse LFQMDVGFGLLGELLVALAE HARLSDRTAVLGILHSLANTG
Xenopus tropicalis LFHAEVCSGLLGEFLLVLSE SFQAIHVEKVLKILQTLAETK
Zebrafish IFSTEIGLGLLGEFLLILSQ CLKSGDEDRVTGVLDGLSKTG
Sequence annotation in neighborhood: 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.
Type Positions Description
1 – 242 Coiled-coil domain-containing protein 103
99 – 242 Missing. In isoform 2.
CCDC103 mutations cause primary ciliary dyskinesia by disrupting assembly of ciliary dynein arms.
Panizzi J.R.; Becker-Heck A.; Castleman V.H.; Al-Mutairi D.A.; Liu Y.; Loges N.T.; Pathak N.; Austin-Tse C.; Sheridan E.; Schmidts M.; Olbrich H.; Werner C.; Haffner K.; Hellman N.; Chodhari R.; Gupta A.; Kramer-Zucker A.; Olale F.; Burdine R.D.; Schier A.F.; O'Callaghan C.; Chung E.M.; Reinhardt R.; Mitchison H.M.; King S.M.; Omran H.; Drummond I.A.;
Nat. Genet. 44:714-719(2012)
Cited for: VARIANT CILD17 PRO-154; FUNCTION; SUBUNIT; CHARACTERIZATION OF VARIANT CILD17 PRO-154;
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.