Variant position: 676 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 851 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 LDYVVNIADSNGNTALHYSV SHANFPVVQQLLDSGVCKVDK
Mouse LDYVVNIADSNGNTALHYSV SHANFPVVRQLLDSGVCHVDK
Rat LDYVVNIADSNGNTALHYSV SHANFPVVRQLLDSGVCQVDK
Bovine LDYVVNIADSNGNTALHYSV SHANFPVVQQLLDSGVCQVDK
Zebrafish LEFVINMADGNGNTALHYTV SHSNFPVVKLLLDTGLCNADK
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 – 851 KN motif and ankyrin repeat domain-containing protein 2
666 – 696 ANK 1
669 – 835 Interaction with NCOA1
670 – 676
KANK deficiency leads to podocyte dysfunction and nephrotic syndrome.
Gee H.Y.; Zhang F.; Ashraf S.; Kohl S.; Sadowski C.E.; Vega-Warner V.; Zhou W.; Lovric S.; Fang H.; Nettleton M.; Zhu J.Y.; Hoefele J.; Weber L.T.; Podracka L.; Boor A.; Fehrenbach H.; Innis J.W.; Washburn J.; Levy S.; Lifton R.P.; Otto E.A.; Han Z.; Hildebrandt F.;
J. Clin. Invest. 125:2375-2384(2015)
Cited for: FUNCTION; INTERACTION WITH ARHGDIA; SUBCELLULAR LOCATION; INVOLVEMENT IN NPHS16; VARIANTS NPHS16 GLY-181 AND PHE-676; CHARACTERIZATION OF VARIANTS NPHS16 GLY-181 AND PHE-684;
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.