Sequence information
Variant position: 1573 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 5005 The length of the canonical sequence.
Location on the sequence:
VPTFKVIKQGLTANSLLDRG
M QLSGSTSNTPYTPLEKKLAD
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 VPTFKVIKQGLTANSLLDRGM QLSGSTSNTPYTPLEKKLAD
Mouse VPTFKVIKQGLTANSLLDRGM QLSGSTSNTPYTPLDKKIVD
Zebrafish IPTFKMVKAGLSASSLLDRGV QLMGDINSTPYTPLDKRAMD
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
Chain
1 – 5005
Transmembrane protein KIAA1109
Alternative sequence
985 – 5005
Missing. In isoform 5.
Literature citations
KIAA1109 Variants Are Associated with a Severe Disorder of Brain Development and Arthrogryposis.
Gueneau L.; Fish R.J.; Shamseldin H.E.; Voisin N.; Tran Mau-Them F.; Preiksaitiene E.; Monroe G.R.; Lai A.; Putoux A.; Allias F.; Ambusaidi Q.; Ambrozaityte L.; Cimbalistiene L.; Delafontaine J.; Guex N.; Hashem M.; Kurdi W.; Jamuar S.S.; Ying L.J.; Bonnard C.; Pippucci T.; Pradervand S.; Roechert B.; van Hasselt P.M.; Wiederkehr M.; Wright C.F.; Xenarios I.; van Haaften G.; Shaw-Smith C.; Schindewolf E.M.; Neerman-Arbez M.; Sanlaville D.; Lesca G.; Guibaud L.; Reversade B.; Chelly J.; Kucinskas V.; Alkuraya F.S.; Reymond A.;
Am. J. Hum. Genet. 102:116-132(2018)
Cited for: INVOLVEMENT IN ALKKUCS; VARIANTS ALKKUCS 519-TYR--HIS-5005 DEL; CYS-968; CYS-1329; ILE-1573; MET-1867; GLN-1958; HIS-3050; ARG-3385 AND 4023-GLU--HIS-5005 DEL;
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.