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Table 4 Information for HJV mutations

From: Genotypic and phenotypic spectra of hemojuvelin mutations in primary hemochromatosis patients: a systematic review

Nucleotide change Amino acid change Coordinates
(GRCh37/hg19)
RSID Allele frequency reported Bioinformatics prediction of missense variant Number of reported probands Family of origin Ethnicity reported Reference Included and excluded cases in the present study ref
1000G ESP ExAC GnomAD PolyPhen-2 (HumDiv) PolyPhen-2 (HumVar) Provean
c.9G>C p.Glu3Asp
(p.E3D)
chr1:145414790 rs12025510 3.00×10-3 NA 1.25×10-3 1.19×10-3 Benign Benign Neutral 5 China East Asian 9 Included: Heterozygote: 5 [9]
c.18G>C p.Gln6His
(p.Q6H)
chr1:145414799 rs376970642 NA 7.70×10-5 2.47×10-5 2.00×10-5 Benign Benign Neutral 6 China East Asian 9,10,11,29 Included: Homozygote: 5 [9, 10, 29]; Heterozygote: 1 [11]
c.55A>G p.Thr19Ala
(p.T19A)
chr1:145414836 rs781981862 NA NA 8.24×10-6 8.16×10-6 Benign Benign Neutral 1 China East Asian 15 Excluded: Heterozygote: 1 [15]
c.81delG p.Leu28SerfsTer24
(p.L28fs)
chr1:145414862 NA NA NA NA NA 1 England/Ireland Caucasian 30 Included: Homozygote: 1 [30]
c.122G>C p.Arg41Pro
(p.R41P)
chr1:145415303 rs781785800 NA NA 8.30×10-6 4.08×10-6 Probably damaging Probably damaging Deleterious 1 France Caucasian 26 Included: Compound heterozygote: 1 [26]
c.138C>A p.Tyr46Ter
(p.Y46*)
chr1:145415319 NA NA NA NA NA 1 China East Asian 31 Included: Homozygote: 1 [31]
c.160A>T p.Arg54Ter
(p.R54*)
chr1:145415341 rs121434375 NA NA NA NA 1 African American African American 17 Excluded: Heterozygote: 1 [17]
c.196G>T p.Gly66Ter
(p.G66*)
chr1:145415377 rs1469129426 NA NA NA NA 2 Czech, Romania: Caucasian 32,33 Included: Homozygote: 2 [32, 33]
c.204_205insGGA p.Gly69dup
(p.G69dup)
chr1:145415386_145415387insGGA NA NA NA NA NA 1 United States (African American) African American 34 Excluded: Heterozygote: 1 [34]
c.208C>T p.Arg70Trp
(p.R70W)
chr1:145415389 rs377513689 NA 1.54×10-4 5.06×10-5 3.31×10-5 Probably damaging Possibly damaging Neutral 1 France Caucasian 35 Excluded: Heterozygote: 1 [35]
c.220delG p.Val74TrpfsTer40
(p.V74fs)
chr1:145415401 NA NA NA NA NA 1 England Caucasian 18 Included: Compound heterozygote: 1 [18]
c.238T>C p.Cys80Arg
(p.C80R)
chr1:145415419 rs28940586 NA NA 8.50×10-6 4.16×10-6 Probably damaging Probably damaging Deleterious 2 Southeast United States, Australia Caucasian 28,36 Included: Compound heterozygote: 2 [28, 36]
c.239G>A p.Cys80Try
(p.C80Y)
chr1: 145415420 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 Bangladesh/United Kingdom Caucasian 37 Included: Compound heterozygote: 1 [37]
c.253T>C p.Ser85Pro
(p.S85P)
chr1:145415434 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 Italy Caucasian 18 Included: Homozygote: 1 [18]
c.265T>C p.Cys89Arg
(p.C89R)
chr1:145415446 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 Western Iran Caucasian 38 Included: Homozygote: 1 [38]
c.295G>A p.Gly99Arg
(p.G99R)
chr1:145415476 NA NA NA NA NA Probably damaging Probably damaging Deleterious 3 Pakistan, Albania Caucasian 18,37 Included: Homozygote: 2; Compound heterozygote: 1 [18, 37]
c.296G>T p.Gly99Val
(p.G99V)
chr1:145415477 rs1451187897 NA NA NA NA Probably damaging Probably damaging Deleterious 1 Greece Caucasian 5 Included: Homozygote: 1 [5]
c.302T>C p.Leu101Pro
(p.L101P)
chr1: 145415483 rs74315327 NA NA 8.65×10-6 8.41×10-6 Probably damaging Probably damaging Deleterious 7 Southeast United, Albania, France Caucasian 18,26,27,36 Included: Compound heterozygote: 5 [18, 26, 36]
Excluded: Heterozygote: 2 [27]
c.306delC p.Phe103SerfsTer11
(p.F103fs)
chr1:145415487 NA NA NA NA NA 1 Italy Caucasian 7 Included: Heterozygote: 1 [7]
c.309C>G p.Phe103Leu
(p.F103L)
chr1:145415490 NA NA NA NA NA Possibly damaging Benign Deleterious 1 China East Asian 9 Included: Homozygote: 1 [9]
c.311A>G p.His104Arg
(p.H104R)
chr1:145415492 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 China East Asian 9 Included: Compound heterozygote: 1 [9]
c.314C>T p.Ser105Leu
(p.S105L)
chr1:145415495 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 France Caucasian 27 Excluded: Heterozygote: 1 [27]
c.346C>T p.Gln116Ter
(p.Q116*)
chr1:145415527 NA NA NA NA NA 1 Ireland Caucasian 39 Included: Compound heterozygote: 1 [39]
c.356G>T p.Cys119Phe
(p.C119F)
chr1:145415537 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 Germany Caucasian 40 Included: Homozygote: 1 [40]
c.391_403del p.Arg131PhefsTer111
(p.R131fs)
chr1:145415572_145415584del rs1486905702 NA NA NA NA 1 Italy Caucasian 18 Included: Homozygote: 1 [18]
c.404T>G p.Leu135Arg
(p.L135R)
chr1:145415585 rs782182681 NA NA 2.75×10-5 1.29×10-5 Benign Benign Neutral 1 Spanish Caucasian 25 Excluded: Heterozygote: 1 [25]
c.445delG p.Asp149ThrfsTer97
(p.D149fs)
chr1:145415626 NA NA NA NA NA 4 Italy Caucasian 8,18 Included: Homozygote: 2 [18]; Heterozygote: 1 [8]
Excluded: Homozygote: 1 [18]
c.494T>A p.Leu165Ter
(p.L165*)
chr1:145415675 rs782431871. NA NA 8.36×10-6 8.32×10-6 2 Netherland Caucasian 16,21 Included: Compound heterozygote: 2 [16, 21]
c.497A>G p.His166Arg
(p.H166R)
Chr1:145415678 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 Arab Caucasian 41 Included: Homozygote: 1 [41]
c.503C>A p.Ala168Asp
(p.A168D)
chr1:145415684 rs782125244 NA NA NA NA Probably damaging Probably damaging Neutral 1 Australia/England Caucasian 18 Included: Homozygote: 1 [18]
c.509T>C p.Phe170Ser
(p.F170S)
chr1:145415690 NA NA NA NA NA Probably damaging Probably damaging Deleterious 2 Italy Caucasian 18 Included: Homozygote: 2 [18]
c.512G>T p.Gly171Val
(p.G171V)
chr1:145415693 rs782077224 NA NA NA NA Probably damaging Probably damaging Deleterious NA Not mentioned Not mentioned 42 NA [42]
c.516C>G p.Asp172Glu
(p.D172E)
chr1:145415697 rs782708481 NA NA 8.35×10-6 4.16×10-6 Probably damaging Probably damaging Deleterious 1 Italy Caucasian 18 Included: Compound heterozygote: 1 [18]
c.515_516insC p.His174ProfsTer23
(p.H174fs)
chr1:145415696_145415697insC NA NA NA NA NA 1 Japan East Asian 43,44 Included: Homozygote: 1 [43, 44]
c.526C>T p.Arg176Cys
(p.R176C)
chr1:145415707 NA NA NA NA NA Probably damaging Probably damaging Deleterious 3 France Caucasian 19,22,26,45 Included: Homozygote: 1 [45] ; Compound heterozygote: 1 [26]
Excluded: Compound heterozygote: 1 [19, 22]
c.539A>G p.His180Arg
(p.H180R)
chr1:145415720 rs1395419937 NA NA NA 2.07×10-5 Benign Benign Neutral 1 France Caucasian 26 Included: Compound heterozygote: 1 [26]
c.573G>T p.Trp191Cys
(p.W191C)
chr1:145415754 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 Italy Caucasian 18 Included: Homozygote: 1 [18]
c.575C>T p.Pro192Leu
(p.P192L)
chr1:145415756 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 Pakistan Caucasian 46 Included: Homozygote: 1 [46]
c.581T>C p.Leu194Pro
(p.L194P)
chr1:145415762 rs782682271 NA NA 8.34×10-6 8.26×10-6 Probably damaging Probably damaging Deleterious 1 Pakistan Caucasian 46 Included: Homozygote: 1 [46]
c.588T>G p.Asn196Lys
(p.N196K)
chr1:145415769 rs1020058448 NA NA NA NA Probably damaging Probably damaging Deleterious 1 Italy Caucasian 8 Excluded: Heterozygote: 1 [8]
c.615C>G p.Ser205Arg
(p.S205R)
chr1:145415796 NA NA NA NA NA Probably damaging Probably damaging Neutral 1 Italy Caucasian 18 Included: Compound heterozygote: 1 [18]
c.665T>A p.Ile222Asn
(p.I222N)
chr1:145416320 rs74315325 NA 7.70×10-5 8.24×10-6 2.44×10-5 Probably damaging Probably damaging Deleterious 2 Southeast United States, Canada Caucasian 5,36 Included: Compound heterozygote: 1 [36]
Excluded: Compound heterozygote: 1 [5]
c.700_702delAAG p.Lys234del
(p.K234del)
chr1:145416355_145416357delAAG NA NA NA NA NA 1 Europe Caucasian 47 Included: Homozygote: 1 [47]
c.739T>A p.Phe247Ile
(p.F247I)
chr1:145416394 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 Turkey Caucasian 16 Included: Homozygote: 1 [16]
c.745G>C p.Asp249His
(p.D249H)
chr1:145416400 NA NA NA NA NA Probably damaging Probably damaging Deleterious 2 Japan East Asian 43,48-50 Included: Homozygote: 2 [43, 48,49,50]
c.749G>T p.Gly250Val
(p.G250V)
chr1:145416404 rs863224819 NA NA NA 3.23×10-5 Probably damaging Probably damaging Deleterious 1 Italy Caucasian 18 Included: Compound heterozygote: 1 [18]
c.791C>T p.Ser264Leu
(p.S264L)
chr1:145416446 rs782576713 NA NA 1.65×10-5 2.03×10-5 Possibly damaging Benign Neutral 1 Spanish Caucasian 23 Excluded: Heterozygote: 1 [23]
c.806dupA p.Asn269LysfsTer43
(p.N269fs)
chr1:145416461dupA NA NA NA NA NA 1 England Caucasian 18 Included: Compound heterozygote: 1 [18]
c.820G>A p.Val274Met
(p.V274M)
chr1:145416475 rs187777957 5.99×10-4 NA 9.88×10-5 8.53×10-5 Probably damaging Probably damaging Deleterious 1 China East Asian 9 Included: Compound heterozygote: 1 [9]
c.842T>C p.Ile281Thr
(p.I281T)
chr1:145416497 rs74315326 NA NA NA 8.12×10-6 Probably damaging Probably damaging Deleterious 3 Greece, China Caucasian, East Asian 5,9,10 Included: Homozygote: 1 [5]; Compound heterozygote: 2 [9, 10]
c.860T>G p.Ile287Ser
(p.I287S)
chr1:145416515 NA NA NA NA NA Possibly damaging Possibly damaging Deleterious 1 China East Asian 31 Included: Homozygote: 1 [31]
c.862C>T p.Arg288Trp
(p.R288W)
chr1:145416517 rs782493762 NA NA 1.65×10-5 1.62×10-5 Probably damaging Probably damaging Deleterious 2 France Caucasian 18,26,51 Included: Homozygote: 2 [18, 26, 51]
c.895A>G p.Lys299Glu
(p.K299E)
chr1:145416550 NA NA NA NA NA Benign Benign Neutral 1 France Caucasian 26 Included: Compound heterozygote: 1 [26]
c.904G>A p.Glu302Lys
(p.E302K)
chr1:145416559 rs143496559 3.99×10-4 3.08×10-4 2.64×10-4 2.72×10-4 Probably damaging Possibly damaging Deleterious 4 Brazil, France Caucasian 12,27 Included: Heterozygote: 2 [12]
Excluded: Heterozygote: 2 [27]
c.929C>G p.Ala310Gly
(p.A310G)
chr1:145416584 rs7540883 2.66×10-2 2.52×10-2 6.97×10-3 5.43×10-3 Probably damaging Possibly damaging Neutral 22 Brazil, United States (African American) Caucasian, African American 12,34 Included: Heterozygote: 1 [12]
Excluded: Heterozygote: 21 [34]
c.934C>T p.Gln312Ter
(p.Q312*)
chr1:145416589 NA NA NA NA NA 3 Japan, China East Asian 9,48,49,52 Included: Homozygote: 1 [49, 52]; Compound heterozygote: 1 [48]
Excluded: Homozygote: 1 [9]
c.950G>C p.Cys317Ser
(p.C317S)
chr1:145416605 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 Italy Caucasian 53 Included: Homozygote: 1 [53]
c.959G>T p.Gly320Val
(p.G320V)
chr1:145416614 rs74315323 NA 3.08×10-4 1.73×10-4 1.58×10-4 Probably damaging Probably damaging Deleterious 45 Bangladesh/United Kingdom, Ireland, Netherland, Southeast United States, United States, Slovakia, Kosovo, Germany, Denmark, Belgium, Canada, Hungary, Australia, Croatia, Brazil, Romania, Greece, Serbia, Italy, France, India Caucasian 5,12,16,18-20,22,24,26-28,34,36,37,39,40,46,54-65 Included: Homozygote: 30 [5, 12, 16, 18,19,20, 22, 24, 26,27,28, 34, 36, 37, 39, 40, 46, 54,55,56,57,58,59,60,61,62,63,64,65]; Compound heterozygote: 7 [16, 34, 36, 37, 39, 40]
Excluded: Compound heterozygote: 4 [5, 22, 24, 26]; Homozygote: 3 [5]; Heterozygote: 1 [27]
c.960dupG p.Cys321ValfsTer21
(p.C321fs)
chr1:145416615_145416616insG NA NA NA NA NA 2 Italy Caucasian 7,18 Included: Compound heterozygote: 1 [18]
Excluded: Heterozygote: 1 [7]
c.963C>G p.Cys321Trp
(p.C321W)
chr1:145416618 rs121434374 NA NA 1.65×10-5 1.22×10-5 Probably damaging Probably damaging Deleterious 1 United States Caucasian 34 Included: Compound heterozygote: 1 [34]
c.962_963delGCinsAA p.Cys321Ter
(p.C321*)
chr1:145416617_145416618delinsAA NA NA NA 8.24×10-6 NA 6 China East Asian 9-11,29 Included: Homozygote: 5 [9, 10, 29]; Heterozygote: 1 [11]
c.976C>T p.Arg326Ter
(p.R326*)
chr1:145416631 rs74315324 NA 7.70×10-5 1.65×10-5 1.22×10-5 2 Australia, Greece Caucasian 5,28 Included: Compound heterozygote: 1 [28]
Excluded: Compound heterozygote: 1 [5]
c.982_985delTCTC p.Ser328AspfsTer10
(p.S328fs)
chr1: 145416637_145416640delTCTC rs786205063 NA NA NA NA 1 Slovakia Caucasian 40 Included: Compound heterozygote: 1 [40]
c.1004G>A p.Arg335Gln
(p.R335Q)
chr1:145416659 rs377109351 NA 1.54×10-4 7.41×10-5 5.69×10-5 Possibly damaging Benign Neutral 2 France Caucasian 27 Excluded: Heterozygote: 2 [27]
c.1006G>T p.Gly336Ter
(p.G336*)
chr1:145416661 NA NA NA NA NA 4 India Caucasian 66 Included: Homozygote: 4 [66]
c.1026delT p.Ala343ProfsTer24
(p.A343fs)
chr1:145416681delT NA NA NA NA NA 1 Sri Lanka Caucasian 37 Included: Homozygote: 1 [37]
c.1080delC p.Cys361ValfsTer6
(p.C361fs)
chr1:145416735delC NA NA NA NA NA 1 Greece Caucasian 5 Included: Homozygote: 1 [5]
c.1081T>C p.Cys361Arg
(p.C361R)
chr1:145416736 NA NA NA NA NA Probably damaging Probably damaging Deleterious 1 France Caucasian 26 Excluded: Compound heterozygote: 1 [26]
c.1097T>A p.Leu366Ter
(p.L366*)
chr1:145416752 rs1205047449 NA NA NA NA 1 Canada Caucasian 20 Included: Homozygote: 1 [20]
c.1114A>G p.Asn372Asp
(p.N372D)
chr1:145416769 rs782156457 NA NA 8.24×10-6 1.22×10-5 Possibly damaging Benign Deleterious 1 France Caucasian 27 Excluded: Heterozygote: 1 [27]
c.1151C>T p.Ala384Val
(p.A384V)
chr1:145416806 NA NA NA NA NA Possibly damaging Possibly damaging Neutral 1 France Caucasian 26 Included: Compound heterozygote: 1 [26]
c.1153C>T p.Arg385Ter
(p.R385*)
chr1:145416808 rs782803011 NA NA 8.24×10-6 2.03×10-5 3 Italy, North Africa Caucasian, North African 18,26 Included: Homozygote: 3 [18, 26]
c.-89-4dupT chr1:145414649 NA NA NA NA NA 1 France Caucasian 19 Excluded: Heterozygote: 1 [19]
c.-36G>A chr1:145414746 NA NA NA NA NA 2 India Caucasian 66 Included: Compound heterozygote: 2 [66]
c.-1624G>A chr1:145413158 NA NA NA NA NA 2 India Caucasian 66 Included: Compound heterozygote: 2 [66]
Gene deletion NA NA NA NA 1 Canada Caucasian 20 Included: Heterozygote: 1 [20]
  1. Abbreviations: 1000G 1000 genome project, ESP exome sequencing project, ExAC Exome Aggregation Consortium, GnomAD Genome Aggregation Database, HJV-HH HJV-related hereditary hemochromatosis, NA not available