AMT


Aminomethyltransferase

Ensembl gene entry
Ensembl gene location
Omim gene
Genetics Home Reference entry

Diseases associated to this gene:
NKH

Finnish Mutations

Mutation Consequence Amino acid change Reference sequence Articles


Foreign Mutations

Mutation Consequence Amino acid change Reference sequence Population Articles
183delC deletion of the third letter of 18Phe codon, Truncated protein, 94 aa's, FS at codon 20/TRM at codon 95 Japanese 9621520
955G>C D276H Japanese 9621520
GTG>GCG V212A Unknown 12948742
IVS2-1G>C splice site mutation Unknown 19299230
IVS7-1G>A Abnormal splicing, skipping of exon 8 Mexican Hispanic, Portuguese, Spanish, Dutch 11139253, 11286506
TAC>TGC Y225C Unknown 12948742
c.125A>G H42R Israel-Arab 9600239
c.136G>A G47R NM_000481 Caucasian 16450403, 8005589
c.147delG deletion of the third letter of 49Met codon, FS at codon 50/TRM at codon 95 NM_000481 Oriental 16450403
c.217C>T R73C NM_000481 Caucasian 16450403
c.230C>T S77L NM_000481 Caucasian 16450403
c.434A>T N145I Caucasian/native american 11286506
c.452_466del deletion start at the second letter of 151Lys codon, no FS/ TRM at codon 398 NM_000481 Caucasian 16450403
c.471+2T>C in intron 4, disruption of splicing donor site, gt>gc NM_000481 Caucasian 16450403
c.535delC deletion of the first letter of 179Leu codon, FS at codon 179/ TRM at codon 180 NM_000481 Oriental 16450403
c.574C>T Q192X Unknown 10873393
c.60delG deletion of the third letter of 20Pro codon, FS at codon 21/TRM at codon 95 NM_000481 Caucasian 16450403
c.61delC deletion of the first letter of 21Ala codon, FS at codon 21/TRM at codon 95 NM_000481 Oriental 16450403
c.806G>A G269D Italian 8005589
c.887G>A R296H Mexican Hispanic 12948742
c.959G>A R320H Anglo-European, Dutch/Spanish, Portugese, Caucasian 10873393, 8005589, 11139253
c.970_972delATG deletion of 320Met codon, no FS/ TRM at codon 482 NM_000481 Oriental 16450403
c.982_972GC>T GC in 328Ala codon was substitued by T, FS at codon 328/ TRM at codon 337 NM_000481 Caucasian 16450403