Table 4 Information for HJV mutations
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 | |
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 | |
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 | |
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 | |
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 | |
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 | |
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] |
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 | |
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 | |
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 | |
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 | |
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] |