Scientist: Research Projects: Human Craniofacial Mutation and Variation Database

The table below lists some of the mutations found in the human gene TWIST. The table gives information on the condition, nucleotide change, amino acid change, type of mutation, and published reference. For more details on each mutation click on "view".

TWIST Mutations and Variations

Explanation of Nomenclature | Reference Sequence

Condition	Nucleotide Change	Amino Acid Change	Type	Reference
Saethre-Chotzen syndrome	230delA;232T>C	K44fsX124	Deletion	Johnson, 1998	view
Saethre-Chotzen syndrome	230delA;232T>C	K44fsX124	Deletion	Johnson, 1998	view
Saethre-Chotzen syndrome	230delA;232T>C	K44fsX124	Deletion	Johnson, 1998	view
Saethre-Chotzen syndrome	283delAinsCG;259_276del18	S95fsX237	Indel	Elanko, 2001	view
Saethre-Chotzen syndrome	283delAinsCG;259_276del18	S95fsX237	Indel	Elanko, 2001	view
Saethre-Chotzen syndrome	2924 bp deletion		Deletion	Johnson, 1998	view
Saethre-Chotzen syndrome	2924 bp deletion		Deletion	Johnson, 1998	view
Saethre-Chotzen syndrome	2924 bp deletion		Deletion	Johnson, 1998	view
Saethre-Chotzen syndrome	355delC	Q119fsX124	Deletion	Elanko, 2001	view
Saethre-Chotzen syndrome	355delC	Q119fsX124	Deletion	Elanko, 2001	view
Saethre-Chotzen syndrome	368C>G	S123W	Missense	Johnson, 1998	view
Saethre-Chotzen syndrome	368C>G	S123W	Missense	Johnson, 1998	view
Saethre-Chotzen syndrome	376G>T	E126X	Nonsense	el Ghouzzi, 1997	view
Saethre-Chotzen syndrome	376G>T	E126X	Nonsense	el Ghouzzi, 1997	view
Saethre-Chotzen syndrome	379_381dup	A127_F128insA	Insertion	Elanko, 2001	view
Saethre-Chotzen syndrome	396_416dup	K133_P139dup	Insertion	Howard, 1997	view
Saethre-Chotzen syndrome	396_416dup	K133_P139dup	Insertion	Howard, 1997	view
Saethre-Chotzen syndrome	407C>T	P136L	Missense	Johnson, 1998	view
Saethre-Chotzen syndrome	407C>T	P136L	Missense	Johnson, 1998	view
Saethre-Chotzen syndrome	416C>A	P139H	Missense	Elanko, 2001	view
Saethre-Chotzen syndrome	421G>T	D141Y	Missense	Paznekas, 1998	view
Saethre-Chotzen syndrome	421G>T	D141Y	Missense	Paznekas, 1998	view
Saethre-Chotzen syndrome	421G>T	D141Y	Missense	Paznekas, 1998	view
Saethre-Chotzen syndrome	454G>C	A152P	Missense	Elanko, 2001	view
Saethre-Chotzen syndrome	454G>C	A152P	Missense	Elanko, 2001	view
Saethre-Chotzen syndrome	465C>A	Y155X	Nonsense	Elanko, 2001	view
Saethre-Chotzen syndrome	472T>C	F158L	Missense	Elanko, 2001	view
Saethre-Chotzen syndrome	472T>C	F158L	Missense	Elanko, 2001	view
Saethre-Chotzen syndrome	472T>C	F158L	Missense	Elanko, 2001	view
Saethre-Chotzen syndrome	481delC	Q161fsX230	Deletion	Elanko, 2001	view
Saethre-Chotzen syndrome	485-488del4	V162fsX229	Deletion	Elanko, 2001	view
Saethre-Chotzen syndrome	485-488del4	V162fsX229	Deletion	Elanko, 2001	view
Saethre-Chotzen syndrome	7C>T	Q3X	Nonsense	Elanko, 2001	view
Saethre-Chotzen syndrome	7C>T	Q3X	Nonsense	Elanko, 2001	view
Saethre-Chotzen syndrome	del(7)(p21.1)		Deletion	Johnson, 1998	view
Saethre-Chotzen syndrome	del(7)(p21.1)		Deletion	Johnson, 1998	view
Saethre-Chotzen syndrome	del(7)(p21.1)		Deletion	Johnson, 1998	view
Saethre-Chotzen syndrome	t(7;18)(p21.2;q23)		Translocation	Wilkie, 1995	view
Saethre-Chotzen syndrome	t(7;8)(p21;q13)		Deletion	Johnson, 1998	view
Unaffected	259_260ins3	G86_A87insG	Insertion	Gripp, 2000	view
Unaffected	259_276del18	A87_G92del6	Deletion	Elanko, 2001	view
Unaffected	259_276del18	A87_G92del6	Deletion	Elanko, 2001	view
Unaffected	274_275ins15	G91_G92ins5	Insertion	Elanko, 2001	view

Last Updated: 1/28/03

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