UniProtKB/SwissProt variant VAR

Fanconi-associated nuclease 1
Gene: FAN1
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Variant information Variant position:

960 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant:

LP/P [Disclaimer] The variants are classified into three categories: LP/P, LB/B and US.

LP/P: likely pathogenic or pathogenic.
LB/B: likely benign or benign.
US: uncertain significance

Residue change:

From Aspartate (D) to Asparagine (N) at position 960 (D960N, p.Asp960Asn). Indicates the amino acid change of the variant. The one-letter and three-letter codes for amino acids used in UniProtKB/Swiss-Prot are those adopted by the commission on Biochemical Nomenclature of the IUPAC-IUB.
Physico-chemical properties:

Change from medium size and acidic (D) to medium size and polar (N) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score:

1 The score within a Blosum matrix for the corresponding wild-type to variant amino acid change. The log-odds score measures the logarithm for the ratio of the likelihood of two amino acids appearing by chance. The Blosum62 substitution matrix is used. This substitution matrix contains scores for all possible exchanges of one amino acid with another:

Lowest score: -4 (low probability of substitution).
Highest score: 11 (high probability of substitution).

More information can be found on the following page
Variant description:

In KMIN. Any additional useful information about the variant.
Other resources:

Links to websites of interest for the variant.

Variant rs751703979 [ dbSNP | Ensembl ]

Sequence information Variant position:

960 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:

LSGVCRHLAADFRHCRGGLP D LVVWNSQSRHFKLVEVKGPN 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                         LSGVCRHLAADFRHCRGGLPDLVVW-------------NSQSRHFKLVEVKGPN

Mouse                         LSGVCRRLAADFRHCRGGLPDLVVW-------------NSQ

Zebrafish                     LSGVFLRMAKDYRHCRGGLPDLVVW-------------STS

Caenorhabditis elegans        LILILRRLAENYRNSRSGFPDLTLW-------------NPE

Slime mold                    IAFISRLLTEDFKSFSHGMPDLLLWKLNNNNDDDIDDKNNN

Fission yeast                 LAQIFLALTQDYKNSSSGIPDLCLW-------------NPS

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 – 1017	Fanconi-associated nuclease 1
Domain	895 – 1007	VRR-NUC
Binding site	960 – 960
Binding site	960 – 960
Binding site	975 – 975
Binding site	976 – 976
Alternative sequence	534 – 1017	Missing. In isoform 2.
Mutagenesis	952 – 952	R -> A. Strongly reduced affinity for sites that have a 5'-terminal phosphate anchor at a flap of 1 nucleotide; when associated with A-706.
Mutagenesis	960 – 960	D -> A. Loss of nuclease activity. Loss of nuclease activity; when associated with A-864; A-975 and A-977.
Mutagenesis	975 – 975	E -> A. Loss of nuclease activity; when associated with A-864; A-960 and A-977.
Mutagenesis	977 – 977	K -> A. Loss of nuclease activity; when associated with A-864; A-960 and A-975.
Beta strand	960 – 964

Literature citations
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;

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.

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9Y2M0: Variant p.Asp960Asn