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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q96PZ2: Variant p.Arg569His

Serine protease FAM111A
Gene: FAM111A
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Variant information Variant position: help 569 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Type of variant: help 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: help From Arginine (R) to Histidine (H) at position 569 (R569H, p.Arg569His). 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: help Change from large size and basic (R) to medium size and polar (H) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help 0 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: help In KCS2; enhanced autocatalytic cleavage. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 569 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 611 The length of the canonical sequence.
Location on the sequence: help KGSLVAMHAAGFAYTYQNET R SIIEFGSTMESILLDIKQRH 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: help The multiple alignment of the region surrounding the variant against various orthologous sequences. 
Human                         KGSLVAMHAAGFAYTYQNETRSIIEFGSTMESILLDIKQ-RH

Mouse                         NGSLVAMHAAGITCTYQAGVSNIIEFGSIMESIDDHMKQDK
Sequence annotation in neighborhood: help 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.
TypePositionsDescription
Chain 1 – 611 Serine protease FAM111A
Region 336 – 611 Interaction with SV40 large T antigen



Literature citations
FAM111A protects replication forks from protein obstacles via its trypsin-like domain.
Kojima Y.; Machida Y.; Palani S.; Caulfield T.R.; Radisky E.S.; Kaufmann S.H.; Machida Y.J.;
Nat. Commun. 11:1318-1318(2020)
Cited for: FUNCTION; CATALYTIC ACTIVITY; PROTEOLYTIC CLEAVAGE; MUTAGENESIS OF 24-TYR-PHE-25; PHE-231; PHE-334 AND SER-541; CHARACTERIZATION OF VARIANTS GCLEB SER-342 DEL AND GLY-528; CHARACTERIZATION OF VARIANTS KCS2 HIS-511 AND HIS-569; FAM111A mutations result in hypoparathyroidism and impaired skeletal development.
Unger S.; Gorna M.W.; Le Bechec A.; Do Vale-Pereira S.; Bedeschi M.F.; Geiberger S.; Grigelioniene G.; Horemuzova E.; Lalatta F.; Lausch E.; Magnani C.; Nampoothiri S.; Nishimura G.; Petrella D.; Rojas-Ringeling F.; Utsunomiya A.; Zabel B.; Pradervand S.; Harshman K.; Campos-Xavier B.; Bonafe L.; Superti-Furga G.; Stevenson B.; Superti-Furga A.;
Am. J. Hum. Genet. 92:990-995(2013)
Cited for: VARIANTS KCS2 HIS-511 AND HIS-569; VARIANTS GCLEB ALA-338; SER-342 DEL; THR-527 AND GLY-528; Mother-to-daughter transmission of Kenny-Caffey syndrome associated with the recurrent, dominant FAM111A mutation p.Arg569His.
Nikkel S.; Ahmed A.; Smith A.; Marcadier J.; Bulman D.; Boycott K.;
Clin. Genet. 86:394-395(2014)
Cited for: VARIANT KCS2 HIS-569; A recurrent de novo FAM111A mutation causes kenny-caffey syndrome type 2.
Isojima T.; Doi K.; Mitsui J.; Oda Y.; Tokuhiro E.; Yasoda A.; Yorifuji T.; Horikawa R.; Yoshimura J.; Ishiura H.; Morishita S.; Tsuji S.; Kitanaka S.;
J. Bone Miner. Res. 29:992-998(2014)
Cited for: VARIANT KCS2 HIS-569;
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.