Variant position: 129 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1665 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 ILLDYTLLSFSYCGTYLASY SSLPEFELALWNWESSIILCK
Mouse ILLDYTLLCFSYCGTYLASY SSLPEFELALWNWEASAILCK
Xenopus laevis AQLDYSLIAFSHAAPYLASY SSIPDHVLTIWNWQESIPLCS
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 – 1665 Cilia- and flagella-associated protein 43
108 – 149 WD 1
Biallelic mutations in CFAP43 and CFAP44 cause male infertility with multiple morphological abnormalities of the sperm flagella.
Tang S.; Wang X.; Li W.; Yang X.; Li Z.; Liu W.; Li C.; Zhu Z.; Wang L.; Wang J.; Zhang L.; Sun X.; Zhi E.; Wang H.; Li H.; Jin L.; Luo Y.; Wang J.; Yang S.; Zhang F.;
Am. J. Hum. Genet. 100:854-864(2017)
Cited for: INVOLVEMENT IN SPGF19; VARIANTS SPGF19 TRP-85; TYR-129; 934-GLU--MET-1665 DEL AND 1378-ARG--MET-1665 DEL;
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.