Neurofibromin 1

Alternative Names

  • Neurofibromin

Associated Diseases

Neurofibromatosis, Type I
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OMIM Number

613113

NCBI Gene ID

4763

Uniprot ID

P21359

Length

374,244 bases

No. of Exons

58

No. of isoforms

6

Protein Name

Neurofibromin

Molecular Mass

319372 Da

Amino Acid Count

2839

Genomic Location

chr17:31,007,873-31,382,116

Gene Map Locus
17q11.2

Description

Neurofibromin protein is produced in many cell types, such as nerve cells and specialized cells called oligodendrocytes and Schwann cells that surround nerves. It acts as a tumor suppressor protein and function as a negative regulator by turning off RAS protein that stimulates cell growth and division, thereby, preventing cell overgrowth. Defects in neurofibromin protein cause an autosomal dominant condition called neurofibromatosis type I (NF1), characterized by cafe-au-lait spots, axillary freckling, Lisch nodules of the iris, multiple neurofibromas, tibial pseudarthrosis and a predisposition to certain benign and malignant tumors of the central and peripheral nervous system.

Epidemiology in the Arab World

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Variant NameCountryGenomic LocationClinvar Clinical SignificanceCTGA Clinical Significance Condition(s)HGVS ExpressionsdbSNPClinvar
NM_000267.3:c.1317delUnited Arab EmiratesNC_000017.11:g.31206296delLikely PathogenicNeurofibromatosis, Type ING_009018.1:g.116320del; NM_000267.3:c.1317del; NP_000258.1:p.Arg440GlufsTer33
NM_000267.3:c.1397_1398dupUnited Arab EmiratesNC_000017.11:g.31214455_31214456dupLikely PathogenicNeurofibromatosis, Type ING_009018.1:g.124479_124480dup; NM_000267.3:c.1397_1398dup; NP_000258.1:p.Thr467LeufsTer7
NM_000267.3:c.574C>TUnited Arab EmiratesNC_000017.11:g.31169985C>TPathogenicPathogenicNeurofibromatosis, Type ING_009018.1:g.80009C>T; NM_000267.3:c.574C>T; NP_000258.1:p.Arg192Ter39751464140093
NM_001042492.2:c.1019_1020delLebanonNC_000017.11:g.31200552_31200553delLikely Pathogenic, PathogenicPathogenicNeurofibromatosis, Type ING_009018.1:g.110576_110577del; NM_001042492.2:c.1019_1020del; NP_001035957.1:p.Ser340CysfsTer121555610903547579
NM_001042492.2:c.1846delUnited Arab EmiratesNC_000017.11:g.31225095delLikely PathogenicNeurofibromatosis, Type ING_009018.1:g.135119del; NM_001042492.2:c.1846del; NP_001035957.1:p.Gln616ArgfsTer15
NM_001042492.2:c.495_498delTGTTLebanonchr17:31169906-31169909PathogenicPathogenicNeurofibromatosis, Type ING_009018.1:g.79930_79933delTGTT; NM_001042492.2:c.495_498delTGTT; NP_001035957.1:p.Cys167fs786201874185021
NM_001042492.2:c.7380delIraqNC_000017.11:g.31350241delPathogenicNeurofibromatosis, Type ING_009018.1:g.260265del; NM_001042492.2:c.7380del; NP_001035957.1:p.Leu2461PhefsTer28
NM_001042492.3:c.1062+2T>CUnited Arab EmiratesNC_000017.11:g.31200597T>CLikely Pathogenic, PathogenicLikely PathogenicNeurofibromatosis, Type ING_009018.1:g.110621T>C; NM_001042492.3:c.1062+2T>C; NP_001035957.1:p.?2066510391956905
NM_001042492.3:c.2540T>CUnited Arab EmiratesNC_000017.11:g.31229155T>CLikely Pathogenic, PathogenicPathogenicNeurofibromatosis, Type ING_009018.1:g.139179T>C; NM_001042492.3:c.2540T>C; NP_001035957.1:p.Leu847Pro19947474768323
NM_001042492.3:c.2998_2999delSaudi ArabiaNC_000017.11:g.31230267_31230268delLikely PathogenicPathogenicNeurofibromatosis, Type ING_009018.1:g.140291_140292del; NM_001042492.3:c.2998_2999del; NP_001035957.1:p.Arg1000CysfsTer201597716817800769
NM_001042492.3:c.3129delSaudi ArabiaNC_000017.11:g.31230857delPathogenicNeurofibromatosis, Type ING_009018.1:g.140881del; NM_001042492.3:c.3129del; NP_001035957.1:p.Glu1043AspfsTer3
NM_001042492.3:c.3291delUnited Arab EmiratesNC_000017.11:g.31232166delLikely PathogenicNeurofibromatosis, Type ING_009018.1:g.142190del; NM_001042492.3:c.3291del; NP_001035957.1:p.Ala1098ProfsTer14
NM_001042492.3:c.3574G>TSyriaNC_000017.11:g.31233079G>TPathogenicPathogenicNeurofibromatosis, Type ING_009018.1:g.143103G>T; NM_001042492.3:c.3574G>T; NP_001035957.1:p.Glu1192Ter14420378171048690
NM_001042492.3:c.3721C>TSaudi ArabiaNC_000017.11:g.31235623C>TPathogenicLikely PathogenicNeurofibromatosis, Type ING_009018.1:g.145647C>T; NM_001042492.3:c.3721C>T; NP_001035957.1:p.Arg1241Ter137854562361
NM_001042492.3:c.4065_4066delUnited Arab EmiratesNC_000017.11:g.31249075_31249076delLikely PathogenicNeurofibromatosis, Type ING_009018.1:g.159098_159099del; NM_001042492.3:c.4065_4066del; NP_001035957.1:p.Glu1356IlefsTer23
NM_001042492.3:c.5347delUnited Arab EmiratesNC_000017.11:g.31327577delPathogenicLikely PathogenicNeurofibromatosis, Type ING_009018.1:g.237601del; NM_001042492.3:c.5347del; NP_001035957.1:p.Tyr1783IlefsTer111567612415570774
NM_001042492.3:c.5529dupSaudi ArabiaNC_000017.11:g.31327759dupPathogenicPathogenicNeurofibromatosis, Type ING_009018.1:g.237783dup; NM_001042492.3:c.5529dup; NP_001035957.1:p.Lys1844GlnfsTer181555533628423917
NM_001042492.3:c.6374T>CUnited Arab EmiratesNC_000017.11:g.31336861T>CUncertain SignificanceLikely Pathogenic, PathogenicNeurofibromatosis, Type ING_009018.1:g.246885T>C; NM_001042492.3:c.6374T>C; NP_001035957.1:p.Leu2125Pro1597843129660822
NM_001042492.3:c.6546C>GUnited Arab EmiratesNC_000017.11:g.31337486C>GPathogenicPathogenicNeurofibromatosis, Type ING_009018.1:g.247510C>G; NM_001042492.3:c.6546C>G; NP_001035957.1:p.Tyr2182Ter876659768803373
NM_001042492.3:c.6704+2T>GSaudi ArabiaNC_000017.11:g.31337882T>GPathogenicPathogenicNeurofibromatosis, Type ING_009018.1:g.247906T>G; NM_001042492.3:c.6704+2T>G1555534928547681
NM_001042492.3:c.6733C>TUnited Arab EmiratesNC_000017.11:g.31338053C>TPathogenicPathogenicNeurofibromatosis, Type INM_001042492.3:c.6733C>T; NP_001035957.1:p.Gln2245Ter1597845013657256
NM_001042492.3:c.7317dupLebanonNC_000017.11:g.31349247dupPathogenicLikely PathogenicNeurofibromatosis, Type ING_009018.1:g.259271dupA; NM_001042492.3:c.7317dup; NP_001035957.1:p.Ala2440SerfsTer815978586331456524
NM_001042492.3:c.775delSaudi ArabiaNC_000017.11:g.31182552delPathogenicNeurofibromatosis, Type ING_009018.1:g.92576del; NM_001042492.3:c.775del; NP_001035957.1:p.Ser259AlafsTer22
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