Scientist: Research Projects: Human Craniofacial Mutation and Variation Database

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

Saethre-Chotzen syndrome Mutations and Variations

Gene	Nucleotide Change	Amino Acid Change	Type	Further Details	Reference
FGFR2	803_810delAGTGGT	VVdel269-270	Deletion	view	Paznekas, 1998
TWIST	230delA;232T>C	K44fsX124	Deletion	view	Johnson, 1998
TWIST	230delA;232T>C	K44fsX124	Deletion	view	Johnson, 1998
TWIST	230delA;232T>C	K44fsX124	Deletion	view	Johnson, 1998
TWIST	283delAinsCG;259_276del18	S95fsX237	Indel	view	Elanko, 2001
TWIST	283delAinsCG;259_276del18	S95fsX237	Indel	view	Elanko, 2001
TWIST	2924 bp deletion		Deletion	view	Johnson, 1998
TWIST	2924 bp deletion		Deletion	view	Johnson, 1998
TWIST	2924 bp deletion		Deletion	view	Johnson, 1998
TWIST	355delC	Q119fsX124	Deletion	view	Elanko, 2001
TWIST	355delC	Q119fsX124	Deletion	view	Elanko, 2001
TWIST	368C>G	S123W	Missense	view	Johnson, 1998
TWIST	368C>G	S123W	Missense	view	Johnson, 1998
TWIST	376G>T	E126X	Nonsense	view	el Ghouzzi, 1997
TWIST	376G>T	E126X	Nonsense	view	el Ghouzzi, 1997
TWIST	379_381dup	A127_F128insA	Insertion	view	Elanko, 2001
TWIST	396_416dup	K133_P139dup	Insertion	view	Howard, 1997
TWIST	396_416dup	K133_P139dup	Insertion	view	Howard, 1997
TWIST	407C>T	P136L	Missense	view	Johnson, 1998
TWIST	407C>T	P136L	Missense	view	Johnson, 1998
TWIST	416C>A	P139H	Missense	view	Elanko, 2001
TWIST	421G>T	D141Y	Missense	view	Paznekas, 1998
TWIST	421G>T	D141Y	Missense	view	Paznekas, 1998
TWIST	421G>T	D141Y	Missense	view	Paznekas, 1998
TWIST	454G>C	A152P	Missense	view	Elanko, 2001
TWIST	454G>C	A152P	Missense	view	Elanko, 2001
TWIST	465C>A	Y155X	Nonsense	view	Elanko, 2001
TWIST	472T>C	F158L	Missense	view	Elanko, 2001
TWIST	472T>C	F158L	Missense	view	Elanko, 2001
TWIST	472T>C	F158L	Missense	view	Elanko, 2001
TWIST	481delC	Q161fsX230	Deletion	view	Elanko, 2001
TWIST	485-488del4	V162fsX229	Deletion	view	Elanko, 2001
TWIST	485-488del4	V162fsX229	Deletion	view	Elanko, 2001
TWIST	7C>T	Q3X	Nonsense	view	Elanko, 2001
TWIST	7C>T	Q3X	Nonsense	view	Elanko, 2001
TWIST	del(7)(p21.1)		Deletion	view	Johnson, 1998
TWIST	del(7)(p21.1)		Deletion	view	Johnson, 1998
TWIST	del(7)(p21.1)		Deletion	view	Johnson, 1998
TWIST	t(7;18)(p21.2;q23)		Translocation	view	Wilkie, 1995
TWIST	t(7;8)(p21;q13)		Deletion	view	Johnson, 1998

Last Updated: 11/24/03

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