Variant position: 871 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: 1017 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 F--MDGIPDVFRNACQAFPLDL CTDSFFTSRRPALEARLQLIH
Mouse F--MDGIPDVFRNAYQASPLDL LTDSFFASREQALEARLQL
Zebrafish F--MDGVPDVFLNPYQTCPLDL HTDCFYGSRREAIEARAEM
Caenorhabditis elegans FATDESVESTWLSELQDCPSDL -SNTLYSKRKEKFEDRFVW
Slime mold F--DSNVPHVFQSPFQNSPLDF GSDEFYFTRKEAIDNRIKR
Fission yeast F--ED-VPGVFQSPFQSAPLDL HTDSFYISRESTIMKRLEE
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 – 1017 Fanconi-associated nuclease 1
534 – 1017 Missing. In isoform 2.
864 – 864 Q -> A. Loss of nuclease activity; when associated with A-960; A-975 and A-977.
868 – 871
FAN1 mutations cause karyomegalic interstitial nephritis, linking chronic kidney failure to defective DNA damage repair.
Zhou W.; Otto E.A.; Cluckey A.; Airik R.; Hurd T.W.; Chaki M.; Diaz K.; Lach F.P.; Bennett G.R.; Gee H.Y.; Ghosh A.K.; Natarajan S.; Thongthip S.; Veturi U.; Allen S.J.; Janssen S.; Ramaswami G.; Dixon J.; Burkhalter F.; Spoendlin M.; Moch H.; Mihatsch M.J.; Verine J.; Reade R.; Soliman H.; Godin M.; Kiss D.; Monga G.; Mazzucco G.; Amann K.; Artunc F.; Newland R.C.; Wiech T.; Zschiedrich S.; Huber T.B.; Friedl A.; Slaats G.G.; Joles J.A.; Goldschmeding R.; Washburn J.; Giles R.H.; Levy S.; Smogorzewska A.; Hildebrandt F.;
Nat. Genet. 44:910-915(2012)
Cited for: VARIANTS KMIN ARG-871; PRO-929; ASP-937 AND ASN-960;
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.