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Last update

21/6/2017

Gene: ATM serine/threonine kinase; ATM

Gene Symbol: ATM
OMIM: 607585
Chromosome location: 11q22.3

Related informations: NCBI Gene Genome Browser Ensembl UniProt GeneCards Kyoto Encyclopedia BioGPS HGNC HPRD

Ataxia-telangiectasia || c.103C>T

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.103C>T
Protein Change:	p.Arg35X
Mutation Type:
Mutation Effect:
Location:	exon 3
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Morocco	Jews	12 widely separated locations in Morocco	32/33 risk alleles in Jewish families of North African origin (Morocco and Tunisia))	NA	Gilad S et al., 1996Gilad S, Bar-Shira A, Harnik R, Shkedy D, Ziv Y, Khosravi R, Brown K, Vanagaite L, Xu G, Frydman M, Lavin MF, Hill D, Tagle DA, Shiloh Y, . Ataxia-telangiectasia: founder effect among north African Jews.. Hum. Mol. Genet.. 1996; 5(12):2033-7
Tunisia	Jews	cities of Nabil and Tunis	32/33 risk alleles in Jewish families of North African origin (Morocco and Tunisia))	NA	Gilad S et al., 1996Gilad S, Bar-Shira A, Harnik R, Shkedy D, Ziv Y, Khosravi R, Brown K, Vanagaite L, Xu G, Frydman M, Lavin MF, Hill D, Tagle DA, Shiloh Y, . Ataxia-telangiectasia: founder effect among north African Jews.. Hum. Mol. Genet.. 1996; 5(12):2033-7

Ataxia-telangiectasia || c.1339C>T

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.1339C>T
Protein Change:	p.Arg447x
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 10
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Lebanon	Druze	NA	1 family	NA	Fares F et al., 2004Fares F, Axelord Ran S, David M, Zelnik N, Hecht Y, Khairaldeen H, Lerner A, . Identification of two mutations for ataxia telangiectasia among the Druze community.. Prenat. Diagn.. 2004; 24(5):358-62

Ataxia-telangiectasia || c.[6672_6673delGG;6677_6680delTACG]

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.[6672_6673delGG;6677_6680delTACG]
Protein Change:	p.Met2224_Arg2227del4insIleSer
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 48
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Lebanon	Druze	NA	1 family	NA	Fares F et al., 2004Fares F, Axelord Ran S, David M, Zelnik N, Hecht Y, Khairaldeen H, Lerner A, . Identification of two mutations for ataxia telangiectasia among the Druze community.. Prenat. Diagn.. 2004; 24(5):358-62

Ataxia-telangiectasia || c.717_720delCCTC

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.717_720delCCTC
Protein Change:	p.Phe239LeufsX15
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 7
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	2 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.1607+1G>T

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.1607+1G>T
Protein Change:
Mutation Type:	Substitution
Mutation Effect:	Splice site
Location:	intron 10
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	2 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.2250G>A

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.2250G>A
Protein Change:
Mutation Type:	Substitution
Mutation Effect:
Location:	exon 14
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	3 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.2502_2503insA

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.2502_2503insA
Protein Change:	p.Val835SerfsX7
Mutation Type:	Insertion
Mutation Effect:	Frameshift
Location:	exon 17
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	2 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.2720_2723del

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.2720_2723del
Protein Change:
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 18
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	2 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.3576G>A

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.3576G>A
Protein Change:
Mutation Type:	Substitution
Mutation Effect:
Location:	exon 24
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	7 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.3802delG

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.3802delG
Protein Change:	p.Val1268X
Mutation Type:	Deletion
Mutation Effect:	Nonsense
Location:	exon 26
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	5 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.3894_3895insT

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.3894_3895insT
Protein Change:	p.Ala1299CysfsX3
Mutation Type:	Insertion
Mutation Effect:	Frameshift
Location:	exon 26
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	3 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.4396C>T

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.4396C>T
Protein Change:	p.Arg1466X
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 29
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	2 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.5979_5983delTAAAG

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.5979_5983delTAAAG
Protein Change:	p.Ser1993ArgfsX23
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 40
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	3 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.7408T>G

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.7408T>G
Protein Change:	p.Tyr2470Asp
Mutation Type:	Substitution
Mutation Effect:	Missense
Location:	exon 50
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	5 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.7517_7520delGAGA

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.7517_7520delGAGA
Protein Change:	p.Arg2506ThrfsX3
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 51
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	10 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.8283_8284delTC

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.8283_8284delTC
Protein Change:	p.Gln2762AlafsX6
Mutation Type:	Deletion
Mutation Effect:	Frameshift
Location:	exon 57
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	3 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.8977C>T

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.8977C>T
Protein Change:	p.Arg2993X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 62
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	2 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

Ataxia-telangiectasia || c.9139C>T

Phenotype:	Ataxia-telangiectasia
Dna Change:	c.9139C>T
Protein Change:	p.Arg3047X
Mutation Type:	Substitution
Mutation Effect:	Nonsense
Location:	exon 63
Transcript:	NM_000051.3

Population	Ethnic Group	Region	Mutation Frquency	Coalescence Time	Reference
Italy	NA	NA	2 patients/48 patients	NA	Chessa L et al., 2009Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, . Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.. Ann. Hum. Genet.. 2009; 73(0):532-9

References

Chessa L, Piane M, Magliozzi M, Torrente I, Savio C, Lulli P, De Luca A, Dallapiccola B, Founder effects for ATM gene mutations in Italian Ataxia Telangiectasia families.Ann. Hum. Genet.. 2009; 73(0):532-9

Fares F, Axelord Ran S, David M, Zelnik N, Hecht Y, Khairaldeen H, Lerner A, Identification of two mutations for ataxia telangiectasia among the Druze community.Prenat. Diagn.. 2004; 24(5):358-62

Gilad S, Bar-Shira A, Harnik R, Shkedy D, Ziv Y, Khosravi R, Brown K, Vanagaite L, Xu G, Frydman M, Lavin MF, Hill D, Tagle DA, Shiloh Y, Ataxia-telangiectasia: founder effect among north African Jews.Hum. Mol. Genet.. 1996; 5(12):2033-7

Created by Hicham Charoute.

Mediterranean Founder Mutation Database (MFMD)

Gene: ATM serine/threonine kinase; ATM

References