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HomeAll Cancer Mutant ClonesFH Mutants

Description of the mutations of FH (NM_000143) Mutants

Keys for Mutation Description

A.A. substitution
Truncation
NT deletion
NT insertion
R280G: Arg at aa-position 280 mutated to Gly
R342X: R at aa-position 342 mutated to a stop codon and caused truncation of the protein
N268_D2: The deletion starts at nt#268. Two bases (including nt268) are deleted
N478-I6: The insertion starts after nt#478. Six bases are inserted

 

SKUMutation DescriptionAffected Codon#Affected NT#DescriptionEffect
RC401077 Q47X47139C>TMuliple leiomyomosis
RC401078 R101P101302G>CMuliple uneous nd uerine leiomyom syndrome
RC401079 R101X101301C>TMuliple leiomyomosis
RC401080 N107T107320A>CMuliple leiomyomosis
RC401081 A117P117349G>CMuliple leiomyomosis
RC401082 L132S132395T>CLeiomyomosis nd renl ell ner
RC401083 H135R135404A>GMuliple uneous nd uerine leiomyom syndrome
RC401084 Q142K142424C>ACuneous leiomyomosis
RC401085 S145X145434C>GLeiomyomosis nd renl ell ner
RC401086 S158I158473G>TMuliple uneous nd uerine leiomyom syndrome
RC401087 R160G160478A>GLeiomyomosis nd renl ell ner
RC401088 P174R174521C>GFumrse defiieny
RC401089 H180R180539A>GMuliple leiomyomosis
RC401090 Q185R185554A>GMuliple leiomyomosis
RC401091 Q185X185553C>TMuliple uneous nd uerine leiomyom syndrome
RC401092 S187L187560C>TLeiomyomosis nd renl ell ner
RC401093 N188S188563A>GLeiomyomosis nd renl ell ner
RC401094 P192L192575C>TMuliple uneous nd uerine leiomyom syndrome
RC401095 M195T195584T>CLeiomyomosis nd renl ell ner
RC401096 H196R196587A>GMuliple leiomyomosis
RC401097 I229T229686T>CMuliple leiomyomosis
RC401098 K230R230689A>GFumrse defiieny
RC401099 R233H233698G>AMuliple leiomyomosis
RC401100 R233L233698G>TLeiomyomosis nd renl ell ner
RC401101 R233C233697C>TFumrse defiieny
RC401102 A274T274820G>AOvrin muinous ysdenom
RC401103 G282V282845G>TMuliple leiomyomosis
RC401104 A308T308922G>AFumrse defiieny
RC401105 N310Y310928A>TMuliple uneous nd uerine leiomyom syndrome
RC401106 F312C312935T>GFumrse defiieny
RC401107 H318L318953A>TFumrse defiieny
RC401108 H318Y318952C>TLeiomyomosis nd renl ell ner
RC401109 V322D322965T>ALeiomyomosis nd renl ell ner
RC401110 T330P330988A>CMuliple leiomyomosis
RC401111 C333Y333998G>AMuliple uneous nd uerine leiomyom syndrome
RC401112 S334R3341002T>GCuneous leiomyomosis
RC401113 L335P3351004T>CLeiomyomosis nd renl ell ner
RC401114 N340K3401020T>ALeiomyomosis nd renl ell ner
RC401115 R343X3431027C>TMuliple leiomyomosis
RC401116 E355K3551063G>AMuliple leiomyomosis
RC401117 N361K3611083T>AMuliple leiomyomosis
RC401118 E362Q3621084G>CFumrse defiieny
RC401119 S365G3651093A>GLeiomyomosis nd renl ell ner
RC401120 S366N3661097G>AMuliple leiomyomosis
RC401121 M368T3681103T>CCuneous leiomyomosis
RC401122 P369S3691105C>TFumrse defiieny
RC401123 N373S3731118A>GRenl ell rinom
RC401124 Q376P3761127A>CFumrse defiieny
RC401125 A385D3851154C>ALeiomyomosis nd renl ell ner
RC401126 V394L3941180G>CMuliple uneous nd uerine leiomyom syndrome
RC401127 G397R3971189G>AMuliple leiomyomosis
RC401128 E404X4041210G>TCuneous leiomyomosis
RC401129 S419P4191255T>CLeiomyomosis nd renl ell ner
RC401130 D425V4251274A>TFumrse defiieny
RC401131 Q439P4391316A>CLeiomyomosis nd renl ell ner
RC401132 M454I4541362G>ALeydi ell umour of he esis
RC401133 Y465C4651394A>GLeiomyomosis nd renl ell ner
RC401134 K467R4671400A>GLeiomyomosis
RC401135 W500X5001499G>AFumrse defiieny
RC401136 L507P5071520T>CMuliple leiomyomosis

 

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