PMID: 28421071

Monogenic Autoinflammatory Diseases with Mendelian Inheritance: Genes, Mutations, and Genotype/Phenotype Correlations.

Frontiers in immunology
D Martorana, F Bonatti, P Mozzoni, A Vaglio, A Percesepe
2017

246 variants were identified in this publication


Variant ID Gene cDNA Protein Consequence Exon Intron
1-247582326-C-A NLRP3 c.230C>A p.Ala77Glu Missense 1/9 -
12-8757963-C-T AICDA c.275G>A p.Arg92Gln Missense 3/5 -
2-113820206-GTGGCTGG-G IL36RN c.420_426delTGGCTGG p.Gly141Metfs*29 Frameshift 5/5 -
2-113818479-T-C IL36RN c.80T>C p.Leu27Pro Missense 3/5 -
16-3293427-C-T MEFV c.2060G>A p.Gly687Asp Missense 10/10 -
16-3299675-G-A MEFV c.1016C>T p.Ser339Phe Missense 3/10 -
12-110028662-T-C MVK c.764T>C p.Leu255Pro Missense 8/11 -
12-110019328-C-T MVK c.500C>T p.Pro167Leu Missense 5/11 -
12-110017682-G-A MVK c.302G>A p.Cys101Tyr Missense 4/11 -
1-32796380-T-C HDAC1 c.850T>C p.Cys284Arg Missense 9/14 -
12-6442671-C-T TNFRSF1A c.334G>A p.Val112Met Missense 4/10 -
12-6439195-G-C TNFRSF1A c.806C>G p.Pro269Arg Missense 9/10 -
1-247599411-A-G NLRP3 c.2638A>G p.Lys880Glu Missense 6/9 -
12-6442655-C-T TNFRSF1A c.350G>A p.Cys117Tyr Missense 4/10 -
6-32810734-C-G PSMB8 c.280G>C p.Ala94Pro Missense 2/6 -
1-247592912-A-G NLRP3 c.2182A>G p.Ser728Gly Missense 4/9 -
17-78155442-C-T CARD14 c.205C>T p.Arg69Trp Missense 2/15 -
16-3293454-C-T MEFV c.2033G>A p.Gly678Glu Missense 10/10 -
12-110012699-T-TT MVK c.72dupT p.Gly25Trpfs*55 Frameshift 2/11 -
16-3299732-C-G MEFV c.959G>C p.Gly320Ala Missense 3/10 -
12-6438490-A-T TNFRSF1A c.1356T>A p.Ser452Arg Missense 10/10 -
16-50745360-T-C NOD2 c.1538T>C p.Met513Thr Missense 4/12 -
16-50745656-G-A NOD2 c.1834G>A p.Ala612Thr Missense 4/12 -
1-247597571-C-A NLRP3 c.2494C>A p.Leu832Ile Missense 5/9 -
12-110019322-C-T MVK c.494C>T p.Pro165Leu Missense 5/11 -
17-78157775-A-C CARD14 c.413A>C p.Glu138Ala Missense 4/15 -
2-113819812-C-T IL36RN c.227C>T p.Pro76Leu Missense 4/5 -
16-50744968-C-G NOD2 c.1146C>G p.Asp382Glu Missense 4/12 -
12-110032947-G-A MVK c.1000G>A p.Ala334Thr Missense 10/11 -
16-3293346-G-A MEFV c.2141C>T p.Pro714Leu Missense 10/10 -
16-3293411-TTAT-T MEFV c.2076_2078delAAT p.Ile692delIle InFrameDeletion 10/10 -
1-247587379-G-A NLRP3 c.634G>A p.Asp212Asn Missense 3/9 -
12-6443265-C-T TNFRSF1A c.185G>A p.Cys62Tyr Missense 2/10 -
12-6442930-A-T TNFRSF1A c.295T>A p.Cys99Ser Missense 3/10 -
12-6442930-A-G TNFRSF1A c.295T>C p.Cys99Arg Missense 3/10 -
6-32810451-G-T PSMB8 c.405C>A p.Cys135* Nonsense 3/6 -
1-117297328-C-T CD2 c.137C>T p.Pro46Leu Missense 2/5 -
17-78157786-G-A CARD14 c.424G>A p.Glu142Lys Missense 4/15 -
1-247597475-C-A NLRP3 c.2398C>A p.Leu800Met Missense 5/9 -
16-3294277-C-T MEFV c.1736G>A p.Arg579His Missense 8/10 -
16-3293529-C-T MEFV c.1958G>A p.Arg653His Missense 10/10 -
2-113820090-C-T IL36RN c.304C>T p.Arg102Trp Missense 5/5 -
16-3304626-C-G MEFV c.442G>C p.Glu148Gln Missense 2/10 -
16-3304632-G-A MEFV c.436C>T p.Gln146* Nonsense 2/10 -
12-110029079-A-G MVK c.802A>G p.Ile268Val Missense 9/11 -
2-32475605-T-G NLRC4 c.1328A>C p.His443Pro Missense 4/9 -
12-110023897-C-T MVK c.598C>T p.Pro200Ser Missense 6/11 -
12-6442248-C-T TNFRSF1A c.538G>A p.Val180Ile Missense 5/10 -
16-3304616-C-G MEFV c.452G>C p.Arg151Thr Missense 2/10 -
12-6443266-A-C TNFRSF1A c.184T>G p.Cys62Gly Missense 2/10 -
16-3304581-C-G MEFV c.487G>C p.Glu163Gln Missense 2/10 -
16-3293600-C-CC MEFV c.1887dupG p.Pro630Alafs*2 Frameshift 10/10 -
2-113819727-C-T IL36RN c.142C>T p.Arg48Trp Missense 4/5 -
12-110032849-A-C MVK c.902A>C p.Asn301Thr Missense 10/11 -
18-2951100-A-T LPIN2 c.543T>A p.Cys181* Nonsense 4/20 -
12-6443327-A-C TNFRSF1A c.123T>G p.Asp41Glu Missense 2/10 -
16-3304761-C-G MEFV c.307G>C p.Asp103His Missense 2/10 -
16-3293173-T-C MEFV c.2314A>G p.Ile772Val Missense 10/10 -
16-3304491-C-T MEFV c.577G>A p.Ala193Thr Missense 2/10 -
12-110029134-C-T MVK c.857C>T p.Pro286Leu Missense 9/11 -
16-3297197-A-G MEFV c.1406T>C p.Val469Ala Missense 5/10 -
16-3293149-G-T MEFV c.2338C>A p.Pro780Thr Missense 10/10 -
12-6439178-G-A TNFRSF1A c.823C>T p.Pro275Ser Missense 9/10 -
16-3306355-T-A MEFV c.233A>T p.Asn78Ile Missense 1/10 -
17-78166423-G-A CARD14 c.1356+5G>A - IntronicSNV - 9/14
16-3293258-G-C MEFV c.2229C>G p.Phe743Leu Missense 10/10 -
16-3293258-G-T MEFV c.2229C>A p.Phe743Leu Missense 10/10 -
1-247587494-A-G NLRP3 c.749A>G p.Gln250Arg Missense 3/9 -
16-50745309-A-T NOD2 c.1487A>T p.His496Leu Missense 4/12 -
16-3304779-G-A MEFV c.289C>T p.Gln97* Nonsense 2/10 -
17-78157933-G-T CARD14 c.571G>T p.Val191Leu Missense 4/15 -
18-2922171-G-A LPIN2 c.2201C>T p.Ser734Leu Missense 17/20 -
2-113820154-C-T IL36RN c.368C>T p.Thr123Met Missense 5/5 -
2-113820154-C-G IL36RN c.368C>G p.Thr123Arg Missense 5/5 -
16-50745832-C-A NOD2 c.2010C>A p.Asn670Lys Missense 4/12 -
16-3297233-G-A MEFV c.1370C>T p.Ala457Val Missense 5/10 -
16-3306572-T-G MEFV c.16A>C p.Ser6Arg Missense 1/10 -
2-113818494-A-G IL36RN c.95A>G p.His32Arg Missense 3/5 -
2-113818520-T-C IL36RN c.115+6T>C - IntronicSNV - 3/4
16-50744969-G-A NOD2 c.1147G>A p.Glu383Lys Missense 4/12 -
15-77323566-G-A PSTPIP1 c.688G>A p.Ala230Thr Missense 10/15 -
12-110012659-C-T MVK c.32C>T p.Pro11Leu Missense 2/11 -
16-3304342-G-C MEFV c.726C>G p.Ser242Arg Missense 2/10 -
16-3304158-C-T MEFV c.910G>A p.Gly304Arg Missense 2/10 -
2-113818503-A-G IL36RN c.104A>G p.Lys35Arg Missense 3/5 -
12-110023903-G-A MVK c.604G>A p.Gly202Arg Missense 6/11 -
12-110032851-C-T MVK c.904C>T p.Gln302* Nonsense 10/11 -
1-247588590-A-T NLRP3 c.1845A>T p.Lys615Asn Missense 3/9 -
16-3304739-A-G MEFV c.329T>C p.Leu110Pro Missense 2/10 -
16-3304703-T-C MEFV c.365A>G p.Asp122Gly Missense 2/10 -
12-110032875-G-A MVK c.928G>A p.Val310Met Missense 10/11 -
16-3299592-G-C MEFV c.1099C>G p.Leu367Val Missense 3/10 -
12-6442254-C-T TNFRSF1A c.532G>A p.Glu178Lys Missense 5/10 -
12-6442938-A-G TNFRSF1A c.287T>C p.Leu96Pro Missense 3/10 -
17-78157873-C-A CARD14 c.511C>A p.His171Asn Missense 4/15 -
17-78157829-T-C CARD14 c.467T>C p.Leu156Pro Missense 4/15 -
1-247588456-G-C NLRP3 c.1711G>C p.Gly571Arg Missense 3/9 -
2-113818440-C-A IL36RN c.41C>A p.Ser14* Nonsense 3/5 -
19-54313707-G-C NLRP12 c.1206C>G p.Phe402Leu Missense 3/10 -
16-3306311-C-G MEFV c.277G>C p.Glu93Gln Missense 1/10 -
16-3306338-C-G MEFV c.250G>C p.Glu84Gln Missense 1/10 -
12-6442960-A-G TNFRSF1A c.265T>C p.Phe89Leu Missense 3/10 -
16-3297171-G-A MEFV c.1432C>T p.His478Tyr Missense 5/10 -
12-110034285-T-C MVK c.1094T>C p.Phe365Ser Missense 11/11 -
16-3304661-C-T MEFV c.407G>A p.Gly136Glu Missense 2/10 -
1-247588858-C-A NLRP3 c.2113C>A p.Gln705Lys Missense 3/9 -
16-3304482-C-A MEFV c.586G>T p.Gly196Trp Missense 2/10 -
12-110034354-G-A MVK c.1163G>A p.Arg388Gln Missense 11/11 -
1-247586640-A-G NLRP3 c.392A>G p.Lys131Arg Missense 2/9 -
16-50744822-C-T NOD2 c.1000C>T p.Arg334Trp Missense 4/12 -
16-3304242-C-A MEFV c.826G>T p.Glu276* Nonsense 2/10 -
16-3293341-T-C MEFV c.2146A>G p.Lys716Glu Missense 10/10 -
1-247607348-C-T NLRP3 c.2744C>T p.Thr915Met Missense 7/9 -
1-247599315-G-C NLRP3 c.2542G>C p.Ala848Pro Missense 6/9 -
1-247586546-C-T NLRP3 c.298C>T p.Arg100Cys Missense 2/9 -
16-3293614-T-G MEFV c.1873A>C p.Lys625Gln Missense 10/10 -
19-54314063-G-A NLRP12 c.850C>T p.Arg284* Nonsense 3/10 -
12-6443275-A-G TNFRSF1A c.175T>C p.Cys59Arg Missense 2/10 -
16-3304268-G-A MEFV c.800C>T p.Thr267Ile Missense 2/10 -
1-247587155-G-A NLRP3 c.410G>A p.Arg137His Missense 3/9 -
16-3298947-G-C MEFV c.1318C>G p.Gln440Glu Missense 4/10 -
18-2931397-GAG-G LPIN2 c.1316_1317delCT p.Ser439Trpfs*15 Frameshift 9/20 -
12-110023863-G-A MVK c.564G>A p.Trp188* Nonsense 6/11 -
15-77324645-G-C PSTPIP1 c.748G>C p.Glu250Gln Missense 11/15 -
16-3304725-G-T MEFV c.343C>A p.Pro115Thr Missense 2/10 -
12-110017618-G-A MVK c.238G>A p.Val80Ile Missense 4/11 -
1-247588048-A-G NLRP3 c.1303A>G p.Thr435Ala Missense 3/9 -
16-3306491-C-A MEFV c.97G>T p.Val33Leu Missense 1/10 -
12-110017711-G-A MVK c.331G>A p.Ala111Thr Missense 4/11 -
2-113820066-G-T IL36RN c.280G>T p.Glu94* Nonsense 5/5 -
1-247582296-C-A NLRP3 c.200C>A p.Ala67Glu Missense 1/9 -
17-78156589-G-A CARD14 c.349G>A p.Gly117Ser Missense 3/15 -
12-6442983-C-A TNFRSF1A c.242G>T p.Cys81Phe Missense 3/10 -
16-3304567-C-G MEFV c.501G>C p.Glu167Asp Missense 2/10 -
16-3297090-C-A MEFV c.1513G>T p.Asp505Tyr Missense 5/10 -
12-110013879-G-A MVK c.155G>A p.Ser52Asn Missense 3/11 -
16-3299648-C-T MEFV c.1043G>A p.Arg348His Missense 3/10 -
16-3293880-A-G MEFV c.1772T>C p.Ile591Thr Missense 9/10 -
16-3306570-A-C MEFV c.18T>G p.Ser6Arg Missense 1/10 -
1-247588456-G-A NLRP3 c.1711G>A p.Gly571Arg Missense 3/9 -
16-3298924-C-G MEFV c.1341G>C p.Lys447Asn Missense 4/10 -
16-3298924-C-A MEFV c.1341G>T p.Lys447Asn Missense 4/10 -
1-247607394-A-C NLRP3 c.2790A>C p.Lys930Asn Missense 7/9 -
12-110013846-T-C MVK c.122T>C p.Leu41Pro Missense 3/11 -
1-247588084-C-T NLRP3 c.1339C>T p.Leu447Phe Missense 3/9 -
1-247607371-A-G NLRP3 c.2767A>G p.Thr923Ala Missense 7/9 -
16-50745635-A-C NOD2 c.1813A>C p.Thr605Pro Missense 4/12 -
1-247588883-A-T NLRP3 c.2138A>T p.His713Leu Missense 3/9 -
16-3304521-G-T MEFV c.547C>A p.Pro183Thr Missense 2/10 -
19-54314295-GCG-TGG NLRP12 c.616_618delCGCinsTGG p.Arg206Trp Missense 3/10 -
12-6442571-T-C TNFRSF1A c.434A>G p.Asn145Ser Missense 4/10 -
1-247599390-G-A NLRP3 c.2617G>A p.Ala873Thr Missense 6/9 -
12-110012643-CCTACTGGTGTCTGCTCCGG-C MVK c.16_34del19 p.Leu6Glyfs*16 Frameshift 2/11 -
12-6442908-C-T TNFRSF1A c.317G>A p.Arg106Gln Missense 3/10 -
2-32475923-G-C NLRC4 c.1010C>G p.Thr337Ser Missense 4/9 -
2-32475924-T-A NLRC4 c.1009A>T p.Thr337Ser Missense 4/9 -
12-110023907-T-C MVK c.608T>C p.Val203Ala Missense 6/11 -
12-6438612-G-C TNFRSF1A c.1234C>G p.Pro412Ala Missense 10/10 -
2-113888636-G-T IL1RN c.229G>T p.Val77Leu Missense 5/6 -
5-138860432-C-T TMEM173 c.463G>A p.Val155Met Missense 5/8 -
16-3304629-G-C MEFV c.439C>G p.Pro147Ala Missense 2/10 -
16-3293447-C-T MEFV c.2040G>A p.Met680Ile Missense 10/10 -
16-3304625-T-A MEFV c.443A>T p.Glu148Val Missense 2/10 -
16-3299480-T-C MEFV c.1211A>G p.His404Arg Missense 3/10 -
16-3293403-T-C MEFV c.2084A>G p.Lys695Arg Missense 10/10 -
16-50745227-C-T NOD2 c.1405C>T p.Leu469Phe Missense 4/12 -
16-3299705-C-T MEFV c.986G>A p.Arg329His Missense 3/10 -
12-6440048-A-G TNFRSF1A c.596T>C p.Ile199Thr Missense 6/10 -
1-247587239-A-G NLRP3 c.494A>G p.Asn165Ser Missense 3/9 -
12-6442989-G-A TNFRSF1A c.236C>T p.Thr79Met Missense 3/10 -
16-3304463-C-T MEFV c.605G>A p.Arg202Gln Missense 2/10 -
16-3293408-TCAT-T MEFV c.2081_2083delTGA p.Met694delMet InFrameDeletion 10/10 -
16-3304553-T-G MEFV c.515A>C p.Gln172Pro Missense 2/10 -
16-3304529-G-T MEFV c.539C>A p.Pro180Gln Missense 2/10 -
6-32810790-G-A PSMB8 c.224C>T p.Thr75Met Missense 2/6 -
12-110034320-G-A MVK c.1129G>A p.Val377Ile Missense 11/11 -
16-3304744-G-T MEFV c.324C>A p.Ser108Arg Missense 2/10 -
1-247587815-A-G NLRP3 c.1070A>G p.Lys357Arg Missense 3/9 -
12-110019270-G-A MVK c.442G>A p.Ala148Thr Missense 5/11 -
16-3304744-G-C MEFV c.324C>G p.Ser108Arg Missense 2/10 -
17-78157898-G-A CARD14 c.536G>A p.Arg179His Missense 4/15 -
16-2835962-G-A PRSS33 c.80C>T p.Ala27Val Missense 3/6 -
17-78157774-GGAG-G CARD14 c.412_414delGAG p.Glu138delGlu InFrameDeletion 4/15 -
16-3299586-G-A MEFV c.1105C>T p.Pro369Ser Missense 3/10 -
1-247597508-G-A NLRP3 c.2431G>A p.Gly811Ser Missense 5/9 -
17-78157951-G-A CARD14 c.589G>A p.Glu197Lys Missense 4/15 -
16-3293310-A-G MEFV c.2177T>C p.Val726Ala Missense 10/10 -
12-6442656-A-G TNFRSF1A c.349T>C p.Cys117Arg Missense 4/10 -
12-110017697-G-A MVK c.317G>A p.Arg106His Missense 4/11 -
12-110024570-C-T MVK c.643C>T p.Arg215* Nonsense 7/11 -
16-3293530-G-A MEFV c.1957C>T p.Arg653Cys Missense 10/10 -
1-247608105-G-C NLRP3 c.2993G>C p.Cys998Ser Missense 8/9 -
16-3294283-G-T MEFV c.1730C>A p.Thr577Asn Missense 8/10 -
12-6443001-G-A TNFRSF1A c.224C>T p.Pro75Leu Missense 3/10 -
12-110019245-C-CC MVK c.417dupC p.Gly140Argfs*47 Frameshift 5/11 -
1-247582310-G-A NLRP3 c.214G>A p.Val72Met Missense 1/9 -
1-247608081-G-C NLRP3 c.2969G>C p.Cys990Ser Missense 8/9 -
1-247611738-A-G NLRP3 c.3043A>G p.Lys1015Glu Missense 9/9 -
2-113820124-C-T IL36RN c.338C>T p.Ser113Leu Missense 5/5 -
12-6442943-G-C TNFRSF1A c.282C>G p.Asn94Lys Missense 3/10 -
16-3306355-T-C MEFV c.233A>G p.Asn78Ser Missense 1/10 -
16-3293205-C-T MEFV c.2282G>A p.Arg761His Missense 10/10 -
12-110012629-T-C MVK c.2T>C p.Met1Thr Missense 2/11 -
16-3293447-C-A MEFV c.2040G>T p.Met680Ile Missense 10/10 -
16-3299759-G-A MEFV c.932C>T p.Ala311Val Missense 3/10 -
16-3299765-G-A MEFV c.926C>T p.Thr309Met Missense 3/10 -
19-54313859-G-A NLRP12 c.1054C>T p.Arg352Cys Missense 3/10 -
12-110012686-A-C MVK c.59A>C p.His20Pro Missense 2/11 -
12-6443274-C-G TNFRSF1A c.176G>C p.Cys59Ser Missense 2/10 -
16-3299468-C-T MEFV c.1223G>A p.Arg408Gln Missense 3/10 -
16-3297221-C-T MEFV c.1382G>A p.Arg461Gln Missense 5/10 -
1-247588112-G-A NLRP3 c.1367G>A p.Gly456Glu Missense 3/9 -
5-138860434-T-C TMEM173 c.461A>G p.Asn154Ser Missense 5/8 -
16-3297166-G-C MEFV c.1437C>G p.Phe479Leu Missense 5/10 -
16-3297166-G-T MEFV c.1437C>A p.Phe479Leu Missense 5/10 -
16-50744823-G-A NOD2 c.1001G>A p.Arg334Gln Missense 4/12 -
1-247588550-A-G NLRP3 c.1805A>G p.Gln602Arg Missense 3/9 -
17-78157888-G-C CARD14 c.526G>C p.Asp176His Missense 4/15 -
16-3299625-G-C MEFV c.1066C>G p.Gln356Glu Missense 3/10 -
16-3293447-C-G MEFV c.2040G>C p.Met680Ile Missense 10/10 -
1-247582305-T-C NLRP3 c.209T>C p.Met70Thr Missense 1/9 -
2-113817043-C-T IL36RN c.28C>T p.Arg10* Nonsense 2/5 -
12-6442635-C-T TNFRSF1A c.370G>A p.Val124Met Missense 4/10 -
12-110029080-T-C MVK c.803T>C p.Ile268Thr Missense 9/11 -
1-247587627-C-G NLRP3 c.882C>G p.Pro294Pro Synonymous 3/9 -
16-3293260-A-G MEFV c.2227T>C p.Phe743Leu Missense 10/10 -
16-3304557-C-T MEFV c.511G>A p.Ala171Thr Missense 2/10 -
12-110017726-T-C MVK c.346T>C p.Tyr116His Missense 4/11 -
16-3304746-T-G MEFV c.322A>C p.Ser108Arg Missense 2/10 -
1-247582326-C-T NLRP3 c.230C>T p.Ala77Val Missense 1/9 -
16-3306464-G-A MEFV c.124C>T p.Arg42Trp Missense 1/10 -
16-3298928-T-G MEFV c.1337A>C p.Glu446Ala Missense 4/10 -
12-110034353-C-T MVK c.1162C>T p.Arg388* Nonsense 11/11 -
16-3306570-A-T MEFV c.18T>A p.Ser6Arg Missense 1/10 -
1-247587329-C-T NLRP3 c.584C>T p.Thr195Met Missense 3/9 -
1-247593035-G-A NLRP3 c.2305G>A p.Gly769Ser Missense 4/9 -
2-32475911-A-G NLRC4 c.1022T>C p.Val341Ala Missense 4/9 -
16-3293423-G-C MEFV c.2064C>G p.Tyr688* Nonsense 10/10 -
16-3293692-T-C MEFV c.1795A>G p.Asn599Asp Missense 10/10 -
1-247607973-C-T NLRP3 c.2861C>T p.Thr954Met Missense 8/9 -
12-110019249-G-GG MVK c.421dupG p.Ala141Glyfs*46 Frameshift 5/11 -
16-3293257-C-A MEFV c.2230G>T p.Ala744Ser Missense 10/10 -
12-6442643-C-T TNFRSF1A c.362G>A p.Arg121Gln Missense 4/10 -
12-6442643-C-G TNFRSF1A c.362G>C p.Arg121Pro Missense 4/10 -
16-3299750-C-T MEFV c.941G>A p.Arg314His Missense 3/10 -
16-3304272-T-C MEFV c.796A>G p.Lys266Glu Missense 2/10 -