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. 2014 Feb 11;1:71–84. doi: 10.1016/j.ymgmr.2013.12.006

Table 4.

Compilation of reported INSR mutations.

A. Missense/nonsense mutations
Location Mutation type Nucleotide change Amino acid change (HGVS nomenclature) Amino acid change (legacy, mature protein) Phenotype Reference
Exon 1 Nonsense c.90C > A p.Tyr30Term Tyr3Term Rabson–Mendenhall syndrome [30]
Exon 2 Missense c.121C > T p.Arg41Trp Arg14Trp Rabson–Mendenhall syndrome [31]
Exon 2 Missense c. 126C > A p.Asn42Lys Asn15Lys Leprechaunism [32]
Exon 2 Missense c.164T > C p.Val55Ala Val28Ala Leprechaunism [33]
Exon 2 Missense c.172G > A p.Gly58Arg Gly31Arg Leprechaunism [34]
Exon 2 Missense c.257A > G p.Asp86Gly Asp59Gly Insulin resistance [35]
Exon 2 Missense c.266T > C p.Leu89Pro Leu62Pro Insulin resistance [35]
Exon 2 Missense c.338G > C p.Arg113Pro Arg86Pro Leprechaunism [8]
Exon 2 Nonsense c.337C > T p.Arg113Term Arg86Term Insulin resistance [36]
Exon 2 Missense c.356C > T p.Ala119Val Ala92Val Leprechaunism [6]
Exon 2 Missense c.359T > A p.Leu120Gln Leu93Gln Insulin resistance [37]
Exon 2 Missense c.425G > T p.Gly142Val Gly115Val Leprechaunism This report
Exon 2 Missense c.433C > T p.Arg145Cys Arg118Cys Insulin resistance A [38]
Exon 2 Missense c.438C > G p.Ile146Met Ile119Met Insulin resistance [39]
Exon 2 Nonsense c.442A > T p.Lys148Term Lys121Term Leprechaunism [40]
Exon 2 Nonsense c.451G > T p.Glu151Term Glu124Term Leprechaunism [6]
Exon 2 Nonsense c.479G > A p.Trp160Term Trp133Term Insulin resistance [32]
Exon 2 Missense c.499G > T p.Val167Leu Val140Leu Insulin resistance A [41]
Exon 2 Missense c.511T > A p.Tyr171Asn Tyr144Asn Diabetes, NIDDM [42]
Exon 2 Missense c.515T > G p.Ile172Ser Ile145Ser Diabetes, NIDDM [42]
Exon 2 Missense c.557G > T p.Cys186Phe Cys159Phe Rabson–Mendenhall syndrome [19]
Exon 2 Missense c.586T > A p.Cys196Ser Cys169Ser Diabetes, NIDDM [42]
Exon 2 Missense c.628T > A p.Trp210Arg Trp183Arg Diabetes, NIDDM [42]
Exon 3 Missense c.659C > T p.Pro220Leu Pro193Leu Leprechaunism [43]
Exon 3 Missense c.679G > A p.Gly227Ser Gly200Ser Diabetes, NIDDM [42]
Exon 3 Missense c.694G > A p.Gly232Ser Gly205Ser Diabetes, NIDDM [42]
Exon 3 Missense c.707A > G p.His236Arg His209Arg Leprechaunism [32]
Exon 3 Missense c.712G > A p.Glu238Lys Glu211Lys Rabson–Mendenhall syndrome [30]
Exon 3 Missense c.766C > T p.Arg256Cys Arg229Cys Rabson–Mendenhall syndrome [19]
Exon 3 Missense c.779T > C p.Leu260Pro Leu233Pro Insulin resistance [44]
Exon 3 Missense c.835C > T p.Arg279Cys Arg252Cys Insulin resistance [45]
Exon 3 Missense c.836G > A p.Arg279His Arg252His Insulin resistance [37]
Exon 3 Missense c.839G > A p.Cys280Tyr Cys253Tyr Insulin resistance A [46]
Exon 3 Nonsense c.895C > T p.Gln299Term Gln272Term Leprechaunism [47]
Exon 3 Missense c.902G > A p.Cys301Tyr Cys274Tyr Leprechaunism [48]
Exon 3 Missense c.932G > A p.Cys311Tyr Cys284Tyr Rabson–Mendenhall syndrome [49]
Exon 4 Missense c.1049C > T p.Ser350Leu Ser323Leu Insulin resistance [50]
Exon 4 Nonsense c.1072C > T p.Arg358Term Arg331Term Insulin resistance [51]
Exon 4 Nonsense c.1114C > T p.Arg372Term Arg345Term Insulin resistance A [52]
Exon 5 Missense c.1156G > A p.Gly386Ser Gly359Ser Rabson–Mendenhall syndrome [53]
Exon 5 Missense c.1177G > A p.Gly393Arg Gly366Arg Leprechaunism [54]
Exon 5 Nonsense c.1195C > T p.Arg399Term Arg372Term Insulin resistance [55]
Exon 5 Missense c.1225T > G p.Phe409Val Phe382Val Insulin resistance [56]
Exon 5 Nonsense c.1246C > T p.Arg416Term Arg389Term Leprechaunism [57]
Exon 6 Missense c.1316G > C p.Trp439Ser Trp412Ser Leprechaunism [58]
Exon 6 Missense c.1372A > G p.Asn458Asp Asn431Asp Insulin resistance [37]
Exon 6 Missense c.1459A > G p.Lys487Glu Lys460Glu Leprechaunism [59]
Exon 6 Missense c.1466A > G p.Asn489Ser Asn462Ser Insulin resistance [32]
Exon 8 Missense c.1627A > T p.Thr543Ser Thr516Ser Diabetes, NIDDM [42]
Exon 8 Missense c.1650G > A p.Ala550Ala Ala523Ala Association with reduced diastolic blood pressure [60]
Exon 9 Missense c.1975T > C p.Trp659Arg Trp632Arg Leprechaunism [61]
Exon 10 Nonsense c.2095C > T p.Gln699Term Gln672Term Leprechaunism [59]
Exon 10 Missense c.2201A > C p.Asp734Ala Asp707Ala Leprechaunism [62]
Exon 12 Missense c.2286G > T p.Arg762Ser Arg735Ser Insulin resistance [63]
Exon 12 Nonsense c.2437C > T p.Arg813Term Arg786Term Leprechaunism [64]
Exon 12 Missense c.2453A > C p.Tyr818Cys Tyr791Cys Leprechaunism [65]
Exon 13 Missense c.2572A > G p.Thr858Ala Thr831Ala Diabetes, NIDDM [66]
Exon 13 Missense c.2621C > T p.Pro874Leu Pro847Leu Leprechaunism/Rabson–Mendenhall syndrome [31]
Exon 13 Nonsense c.2668C > T p.Arg890Term Arg863Term Leprechaunism [65]
Exon 13 Missense c.2669G > C p.Arg890Pro Arg863Pro Diabetes, NIDDM [42]
Exon 13 Nonsense c.2673T > A p.Tyr891Term Tyr864Term Insulin resistance A [46]
Exon 14 Missense c.2717C > G p.Ala906Gly Ala879Gly Diabetes, NIDDM [42]
Exon 14 Nonsense c.2770C > T p.Arg924Term Arg897Term Leprechaunism [23]
Exon 14 Missense c.2774T > C p.Ile925Thr Ile898Thr Leprechaunism [6]
Exon 14 Missense c.2776C > T p.Arg926Trp Arg899Trp Leprechaunism [6]
Exon 14 Missense c.2810C > T p.Thr937Met Thr910Met Leprechaunism [67]
Exon 16 Missense c.2971C > A p.Leu991Ile Leu964Ile Leprechaunism This report
Exon 16 Missense c.2989C > A p.Pro997Thr Pro970Thr Rabson–Mendenhall syndrome [6]
Exon 17 Missense c.3034G > A p.Val1012Met Val985Met Diabetes, NIDDM [68]
Exon 17 Missense c.3059G > A p.Arg1020Gln Arg993Gln Insulin resistance [69]
Exon 17 Missense c.3067A > T p.Ile1023Phe Ile996Phe Insulin resistance [70]
Exon 17 Nonsense c.3079C > T p.Arg1027Term Arg1000Term Insulin resistance [32]
Exon 17 Missense c.3104G > T p.Gly1035Val Gly1008Val Diabetes, NIDDM [14]
Exon 17 Missense c.3143G > A p.Gly1048Asp Gly1021Asp Insulin resistance [71]
Exon 17 Missense c.3160G > A p.Val1054Met Val1027Met Leprechaunism [61]
Exon 17 Missense c.3164C > T p.Ala1055Val Ala1028Val Insulin resistance A [41]
Exon 17 Missense c.3224C > A p.Ala1075Asp Ala1048Asp Insulin resistance [72]
Exon 17 Missense c.3255C > T p.His1085His His1058His Association with polycystic ovary syndrome in lean women [29]
Exon 17 Missense c.3257T > A p.Val1086Glu Val1059Glu Diabetes, NIDDM [42]
Exon 18 Missense c.3283A > G p.Lys1095Glu Lys1068Glu Diabetes, NIDDM [68]
Exon 18 Missense c.3220G > C p.Glu1074Gln Glu1047Gln Rabson–Mendenhall syndrome [31]
Exon 18 Missense c.3356G > A p.Arg1119Gln Arg1092Gln Leprechaunism [11]
Exon 18 Missense c.3355C > T p.Arg1119Trp Arg1092Trp Leprechaunism [49]
Exon 19 Missense c.3428T > C p.Ile1143Thr Ile1116Thr Rabson–Mendenhall syndrome [13]
Exon 19 Missense c.3436G > C p.Gly1146Arg Gly1119Arg Insulin resistance [71]
Exon 19 Missense c.3439A > T p.Met1147Leu Met1120Leu Insulin resistance A [73]
Exon 19 Nonsense c.3447C > A p.Tyr1149Term Tyr1122Term Insulin resistance [37]
Exon 19 Missense c.3470A > G p.His1157Arg His1130Arg Insulin resistance [74]
Exon 19 Missense c.3471T > A p.His1157Gln His1130Gln Diabetes, NIDDM [42]
Exon 19 Missense c.3473G > A p.Arg1158Gln Arg1131Gln Insulin resistance [75]
Exon 19 Missense c.3472C > T p.Arg1158Trp Arg1131Trp Rabson–Mendenhall syndrome [13]
Exon 19 Missense c.3481G > A p.Ala1161Thr Ala1134Thr Insulin resistance [76]
Exon 19 Missense c.3485C > A p.Ala1162Glu Ala1135Glu Insulin resistance [77]
Exon 20 Missense c.3540G > A p.Met1180Ile Met1153Ile Insulin resistance [78]
Exon 20 Missense c.3572G > A p.Arg1191Gln Arg1164Gln Diabetes, NIDDM [79]
Exon 20 Missense c.3602G > A p.Arg1201Gln Arg1174Gln Insulin resistance [80]
Exon 20 Missense c.3601C > T p.Arg1201Trp Arg1174Trp Leprechaunism [81]
Exon 20 Missense c.3614C > T p.Pro1205Leu Pro1178Leu Insulin resistance [82]
Exon 20 Missense c.3618G > C p.Glu1206Asp Glu1179Asp Insulin resistance [83]
Exon 20 Missense c.3616G > A p.Glu1206Lys Glu1179Lys Leprechaunism [49]
Exon 20 Missense c.3659G > T p.Trp1220Leu Trp1193Leu Insulin resistance [83]
Exon 21 Missense c.3680G > C p.Trp1227Ser Trp1200Ser Insulin resistance [76]
Exon 21 Nonsense c.3769C > T p.Gln1257Term Gln1230Term Insulin resistance A [73]
Exon 22 Missense c.4082A > G p.Tyr1361Cys Tyr1334Cys Diabetes, NIDDM [66]
Exon 22 Missense c.4133G > A p.Arg1378Gln Arg1351Gln Insulin resistance [50]



B. Splice site, insertion/deletion, and large gene rearrangement mutations
Location Mutation type Nucleotide change Phenotype Reference
Intron 2 Splice site c.1124-2A > G Insulin resistance [67]
Intron 5 Splice site c.1268 + 2T > C Rabson–Mendenhall syndrome [31]
Intron 6 Splice site c.1483 + 43G > T Diabetes, type 2, association with [84]
Intron 13 Splice site c.2682 + 1G > A Leprechaunism [9]
Intron 14 Splice site c.2842 + 1G > A Insulin resistance A [85]
Exon 17 Splice site c.3258G > A Fiber-type disproportion myopathy, congenital [86]
Intron 21 Splice site c.3794 + 1G > T Leprechaunism [31]
Intron 21 Splice site c.3795-1G > A Insulin resistance A [41]
Exon 1 Deletion c.22_31del10 Insulin resistance [87]
Exon 2 Deletion c.404delA Leprechaunism [47]
Exon 2 Deletion c.444_446delGAA Leprechaunism [88]
Exon 3 Deletion c.927_929delCAA Leprechaunism [9]
Exon 4 Deletion c.1084_1086delGTC Leprechaunism [89]
Exon 9 Deletion c.1998_2001delTGAG Leprechaunism [6]
Exon 12 Deletion c.2480_2487del8 Insulin resistance [67]
Exon 15 Deletion c.2944_2945delAG Leprechaunism [90]
Exon 17 Deletion c.3077_3079delTTC Insulin resistance [91]
Exon 19 Deletion c.3408delG Leprechaunism [67]
Intron 20 Deletion c.3659 + 1_3659 + 3delGTG Insulin resistance [92]
Exon 3 Insertion c.866_867ins12 Rabson–Mendenhall syndrome [36]
Exon 10 Insertion c.2050_2051insG Leprechaunism [6]
Exon 10 Insertion c.2125_2126insA Leprechaunism [6]
Exon 2 Large deletion ex. 2 (c.101-652) Insulin resistance [70]
Exon 3 Large deletion ex. 3 (c.653-974) Insulin resistance [93]
Exons 10–13 Large deletion > 12 kb incl. ex. 10-13 Leprechaunism [49]
Exon 14 Large deletion 1.2 kb incl. ex. 14 Acanthosis nigricans [94]
Full gene Large deletion Entire gene Leprechaunism [26]
Exon 13 Indel c.2630_2642delins5 Leprechaunism [95]
Exon 14 Indel c.2752_2753delinsTG Diabetes, NIDDM [42]
Complex Rec. INSR/Alu Acanthosis nigricans, insulin related [96]
Complex Translocation t(7;19)(p15.2;p13.2) Insulin resistance [97]