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UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q9ULV0: Variant p.Arg92Cys

Unconventional myosin-Vb
Gene: MYO5B
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Variant information Variant position: help 92 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 Cysteine (C) at position 92 (R92C, p.Arg92Cys). 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 (C) The physico-chemical property of the reference and variant residues and the change implicated.
BLOSUM score: help -3 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 PFIC10. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 92 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 1848 The length of the canonical sequence.
Location on the sequence: help NDLTALSYLHEPAVLHNLKV R FLESNHIYTYCGIVLVAINP 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                         NDLTALSYLHEPAVLHNLKVRFLESNHIYTYCGIVLVAINP

Mouse                         NDLTALSHLHEPAVLHNLKVRFLESNHIYTYCGIVLVAINP

Rat                           NDLTALSHLHEPAVLHNLKVRFLESNHIYTYCGIVLVAINP
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 – 1848 Unconventional myosin-Vb
Domain 69 – 761 Myosin motor
Alternative sequence 1 – 1430 Missing. In isoform 3.
Alternative sequence 1 – 859 Missing. In isoform 2.



Literature citations
MYO5B mutations cause cholestasis with normal serum gamma-glutamyl transferase activity in children without microvillous inclusion disease.
Gonzales E.; Taylor S.A.; Davit-Spraul A.; Thebaut A.; Thomassin N.; Guettier C.; Whitington P.F.; Jacquemin E.;
Hepatology 65:164-173(2017)
Cited for: VARIANTS PFIC10 CYS-92; CYS-119; THR-500; PRO-642; TRP-799 AND CYS-824; INVOLVEMENT IN PFIC10;
Mutations in myosin 5B in children with early-onset cholestasis.
Cockar I.; Foskett P.; Strautnieks S.; Clinch Y.; Fustok J.; Rahman O.; Sutton H.; Mtegha M.; Fessatou S.; Kontaki E.; Papaevangelou V.; Deheragoda M.; Thompson R.J.; Grammatikopoulos T.;
J. Pediatr. Gastroenterol. Nutr. 71:184-188(2020)
Cited for: VARIANTS DIAR2 LYS-82 AND 1016-ARG--VAL-1848 DEL; VARIANTS PFIC10 CYS-92; THR-392; THR-488 AND CYS-824;
Congenital diarrhea and cholestatic liver disease: phenotypic spectrum associated with MYO5B mutations.
Aldrian D.; Vogel G.F.; Frey T.K.; Ayyildiz Civan H.; Aksu A.U.; Avitzur Y.; Ramos Boluda E.; Cakir M.; Demir A.M.; Deppisch C.; Duba H.C.; Dueker G.; Gerner P.; Hertecant J.; Hornova J.; Kathemann S.; Koeglmeier J.; Koutroumpa A.; Lanzersdorfer R.; Lev-Tzion R.; Lima R.; Mansour S.; Meissl M.; Melek J.; Miqdady M.; Montoya J.H.; Posovszky C.; Rachman Y.; Siahanidou T.; Tabbers M.; Uhlig H.H.; Uenal S.; Wirth S.; Ruemmele F.M.; Hess M.W.; Huber L.A.; Mueller T.; Sturm E.; Janecke A.R.;
J. Clin. Med. 10:0-0(2021)
Cited for: VARIANTS PFIC10 CYS-92; LEU-557 AND 1375-GLN--VAL-1848 DEL; VARIANTS DIAR2 ARG-81; LYS-82; 149-GLN--VAL-1848 DEL; VAL-316; ARG-336; 363-ARG--VAL-1848 DEL; THR-392; ASN-416; GLY-492; PHE-497; 526-GLN--VAL-1848 DEL; 574-GLU--VAL-1848 DEL; PRO-580; CYS-656; 672-LYS--VAL-1848 DEL; MET-686; 749-ARG--VAL-1848 DEL; 1016-ARG--VAL-1848 DEL; 1064-ARG--VAL-1848 DEL; 1172-GLN--VAL-1848 DEL; PRO-1361; 1467-GLN--VAL-1848 DEL; 1600-GLN--VAL-1848 DEL AND 1795-ARG--VAL-1848 DEL;
MYO5B gene mutations: a not negligible cause of intrahepatic cholestasis of infancy with normal gamma-glutamyl transferase phenotype.
Matarazzo L.; Bianco A.M.; Athanasakis E.; Serveres M.; Francalanci P.; Cenacchi G.; Maggiore G.; D'Adamo A.P.;
J. Pediatr. Gastroenterol. Nutr. 74:e115-e121(2022)
Cited for: VARIANTS PFIC10 CYS-92; 252-GLN--VAL-1848 DEL; LEU-517; CYS-654 AND CYS-824;
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.