Sequence information
Variant position: 477 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 656 The length of the canonical sequence.
Location on the sequence:
CEQRQMTEQVRSICKILAMK
A VRNNRLGSALSWSIRAKDAA
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 CEQRQMTEQVR-SICKILAMKA VRNNRLGSALSWSIRAKDAA
Mouse CEQRQMTEQVK-SICKILAMKA VRNNRLGSALSWSIRAKDA
Rat CEQRQMTEQVG-SICKILAMKA VRNNRLGSALSWSIRAKDA
Bovine CEQRQMTEQVR-SICKVLAMKA VRNNRLGSALSWSIRAKDA
Xenopus laevis CEQRQMTEQVR-SICKTMAMQS LCNRRLGSALSWSIRAKDA
Xenopus tropicalis CEKRQMTEQVR-SICKTMAMQS LCNGRLGSALSWSIRAKDA
Zebrafish CEDRQMSEQVR-SICKIMAKRA LRNNRLGSALSWSIRAKDA
Slime mold -DKWATSVETKNSIYKMLSLQD FKRKRYAASLNWLMLANDN
Baker's yeast CVEWRLPEIAK-EIYTTLGNQM LSAHNIIESIANFSRAGKY
Fission yeast CKQLKLRDEAQ-LVLTHWADEL IARNHYGEALIALDNAANY
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 – 656
Nuclear pore complex protein Nup85
Literature citations
Mutations in multiple components of the nuclear pore complex cause nephrotic syndrome.
Braun D.A.; Lovric S.; Schapiro D.; Schneider R.; Marquez J.; Asif M.; Hussain M.S.; Daga A.; Widmeier E.; Rao J.; Ashraf S.; Tan W.; Lusk C.P.; Kolb A.; Jobst-Schwan T.; Schmidt J.M.; Hoogstraten C.A.; Eddy K.; Kitzler T.M.; Shril S.; Moawia A.; Schrage K.; Khayyat A.I.A.; Lawson J.A.; Gee H.Y.; Warejko J.K.; Hermle T.; Majmundar A.J.; Hugo H.; Budde B.; Motameny S.; Altmueller J.; Noegel A.A.; Fathy H.M.; Gale D.P.; Waseem S.S.; Khan A.; Kerecuk L.; Hashmi S.; Mohebbi N.; Ettenger R.; Serdaroglu E.; Alhasan K.A.; Hashem M.; Goncalves S.; Ariceta G.; Ubetagoyena M.; Antonin W.; Baig S.M.; Alkuraya F.S.; Shen Q.; Xu H.; Antignac C.; Lifton R.P.; Mane S.; Nuernberg P.; Khokha M.K.; Hildebrandt F.;
J. Clin. Invest. 128:4313-4328(2018)
Cited for: FUNCTION; INTERACTION WITH NUP160; INVOLVEMENT IN NPHS17; VARIANTS NPHS17 VAL-477; PRO-581 AND TRP-645; CHARACTERIZATION OF VARIANTS NPHS17 VAL-477; PRO-581 AND TRP-645;
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.