Variant position: 39 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 440 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 LRSFPLREMGSEGWNQQHEN LEKLNMQAILDATVSQGEPIQ
Mouse LRSFQLREMGSEGWNKQHES LEKLNMQAILDATISQAEPIQ
Rat LHSFQLREMGSEGWSKQHEN LEKLNMQAILDATVSQAEPIQ
Xenopus laevis LQTFSVRDIASGGWFKQHEY IEKLNMQAILNASAGQEEMIK
Zebrafish LEKMSLRDIGSPRWFRQHEF IEKLNMQAILNASANQEEFIK
Drosophila IRPFEVREVGSPKWLEVHEM ILGLSQQAALELSQNREEEVK
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 – 440 Zinc finger MYND domain-containing protein 10
Mutations in ZMYND10, a gene essential for proper axonemal assembly of inner and outer dynein arms in humans and flies, cause primary ciliary dyskinesia.
Moore D.J.; Onoufriadis A.; Shoemark A.; Simpson M.A.; Zur Lage P.I.; de Castro S.C.; Bartoloni L.; Gallone G.; Petridi S.; Woollard W.J.; Antony D.; Schmidts M.; Didonna T.; Makrythanasis P.; Bevillard J.; Mongan N.P.; Djakow J.; Pals G.; Lucas J.S.; Marthin J.K.; Nielsen K.G.; Santoni F.; Guipponi M.; Hogg C.; Antonarakis S.E.; Emes R.D.; Chung E.M.; Greene N.D.; Blouin J.L.; Jarman A.P.; Mitchison H.M.;
Am. J. Hum. Genet. 93:346-356(2013)
Cited for: VARIANTS CILD22 GLY-16; PRO-39 AND PRO-266; FUNCTION; INTERACTION WITH LRRC6;
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.