Expasy logo

UniProtKB/Swiss-Prot variant pages

UniProtKB/Swiss-Prot Q6ZVN8: Variant p.Gly320Val

Hemojuvelin
Gene: HJV
Feedback?
Variant information Variant position: help 320 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 Glycine (G) to Valine (V) at position 320 (G320V, p.Gly320Val). 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 glycine (G) to medium size and hydrophobic (V) 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 HFE2A. Any additional useful information about the variant.
Other resources: help Links to websites of interest for the variant.


Sequence information Variant position: help 320 The position of the amino-acid change on the UniProtKB canonical protein sequence.
Protein sequence length: help 426 The length of the canonical sequence.
Location on the sequence: help VAEDVAMAFSAEQDLQLCVG G CPPSQRLSRSERNRRGAITI 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                         VAEDVAMAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAITI

Mouse                         VAEDVARAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAIAI

Rat                           VAEDVARAFSAEQDLQLCVGGCPPSQRLSRSERNRRGAIAI

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 36 – 400 Hemojuvelin



Literature citations
Mutations in HFE2 cause iron overload in chromosome 1q-linked juvenile hemochromatosis.
Papanikolaou G.; Samuels M.E.; Ludwig E.H.; MacDonald M.L.E.; Franchini P.L.; Dube M.-P.; Andres L.; MacFarlane J.; Sakellaropoulos N.; Politou M.; Nemeth E.; Thompson J.; Risler J.K.; Zaborowska C.; Babakaiff R.; Radomski C.C.; Pape T.D.; Davidas O.; Christakis J.; Brissot P.; Lockitch G.; Ganz T.; Hayden M.R.; Goldberg Y.P.;
Nat. Genet. 36:77-82(2004)
Cited for: NUCLEOTIDE SEQUENCE [MRNA] (ISOFORM A); ALTERNATIVE SPLICING; TISSUE SPECIFICITY; VARIANTS HFE2A ASN-222 AND VAL-320; Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Lanzara C.; Roetto A.; Daraio F.; Rivard S.; Ficarella R.; Simard H.; Cox T.M.; Cazzola M.; Piperno A.; Gimenez-Roqueplo A.P.; Grammatico P.; Volinia S.; Gasparini P.; Camaschella C.;
Blood 103:4317-4321(2004)
Cited for: VARIANTS HFE2A PRO-85; ARG-99; ASP-168; SER-170; GLU-172; CYS-191; ARG-205; VAL-250; TRP-288 AND VAL-320; Genetic abnormalities and juvenile hemochromatosis: mutations of the HJV gene encoding hemojuvelin.
Lee P.L.; Beutler E.; Rao S.V.; Barton J.C.;
Blood 103:4669-4671(2004)
Cited for: VARIANTS HFE2A ARG-80; PRO-101; ASN-222 AND VAL-320; Hemojuvelin (HJV) mutations in persons of European, African-American and Asian ancestry with adult onset haemochromatosis.
Lee P.L.; Barton J.C.; Brandhagen D.; Beutler E.;
Br. J. Haematol. 127:224-229(2004)
Cited for: VARIANTS HFE2A VAL-320 AND TRP-321;
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.