Transcript #00000534

Transcript name membrane-bound transcription factor peptidase, site 2
Gene name MBTPS2 (membrane-bound transcription factor peptidase, site 2)
Chromosome X
Transcript - NCBI ID NM_015884.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_056968.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

142 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. 1 c.-262C>A - r.(?) p.?
?/. 1i c.76-328G>C - r.(?) p.?
?/. - c.76-328G>C - - p.(=)
?/. 2 c.197G>C - r.(?) p.(Arg66Pro)
?/. 2 c.222A>G - r.(?) p.(=)
?/. - c.222A>G - - p.(=)
?/. - c.222A>G - - p.(=)
+?/. 2 c.222A>G - r.(?) p.(=)
-/. 2 c.222A>G - r.(?) p.?
?/. 2i c.224+51G>A - r.(?) p.?
?/. 2i c.225-371G>A - r.(?) p.(=)
+/. 2i c.255-6T>A - r.255_256ins256-4_256-1 p.Trp75*
+/. 2i c.255-6T>A - r.spl? p.?
+/. 2i c.255-6T>A - r.spl? p.?
-/. 3 c.261G>A - r.(?) p.Met87Ile
+?/. 3 c.261G>A - r.(?) p.Met87Ile
+?/. 3 c.261G>A - r.(?) p.Met87Ile
+/. 3 c.261G>A - r.(?) p.(Met87Ile)
+/. 3 c.261G>A - r.(?) p.(Met87Ile)
+/. 3 c.261G>A - r.(?) p.(Met87Ile)
+/. 3 c.261G>A - r.(?) p.(Met87Ile)
+/. 3 c.261G>A - r.(?) p.(Met87Ile)
+/. 3 c.261G>A - r.(?) p.(Met87Ile)
+?/. 3 c.261G>A - r.(?) p.Met87Ile
+?/. 3 c.261G>A - r.(?) p.Met87Ile
+?/. 3 c.261G>A - r.(?) p.Met87Ile
+?/. 3 c.261G>A - r.(?) p.Met87Ile
+/. 3 c.261G>A - r.(?) p.(Met87Ile)
+/. 3 c.261G>A - r.(?) p.(Met87Ile)
+/. 3 c.261G>A - r.(?) p.(Met87Ile)
-?/. - c.291G>A likely benign r.(?) p.(=)
-/. - c.291G>A benign r.(?) p.(=)
-?/. - c.307G>A likely benign r.(?) p.(Ala103Thr)
?/. 3 c.338A>C - r.(?) p.(Tyr113Ser)
?/. 3 c.339C>T - r.(?) p.(=)
-?/. - c.366_383del likely benign r.(?) p.(Ser131_Ser136del)
-?/. - c.366_383del likely benign r.(?) p.(Ser131_Ser136del)
?/. 3 c.387_389del - Ser130del p.(Ser136del)
-?/. - c.390_392del likely benign r.(?) p.(Ser136del)
-?/. - c.408G>A likely benign r.(?) p.(=)
?/. 3i c.438+59A>C - r.(?) p.?
-?/. - c.459C>T likely benign r.(?) p.(=)
-?/. - c.485C>T likely benign r.(?) p.(Thr162Met)
?/. - c.485C>T VUS r.(?) p.(Thr162Met)
-?/. - c.485C>T likely benign r.(?) p.(Thr162Met)
?/. 4i c.542+253A>G - r.(?) p.?
?/. - c.542+253A>G - - p.(=)
?/. - c.542+253A>G - - p.(=)
-?/. - c.639G>A likely benign r.(?) p.(=)
?/. - c.670+2766T>C - - p.(=)
?/. - c.670+2766T>C - - p.(=)
-?/. - c.670+3074T>G likely benign r.(=) p.(=)
-?/. - c.670+3899C>T likely benign r.(=) p.(=)
-?/. - c.670+3993G>A likely benign r.(=) p.(=)
?/. - c.670+4027A>G VUS r.(=) p.(=)
?/. - c.670+4027A>G VUS r.(=) p.(=)
?/. - c.670+4200del - - p.(=)
?/. - c.670+4200del - - p.(=)
?/. - c.670+4491A>G - - p.(=)
+/. 5i c.671-9T>G - r.671_789del p.Ile225Leufs*25
+/. 5i c.671-9T>G - r.671_789del p.Ile225Leufs*25
-/. 6 c.677G>T - r.(?) p.Trp226Leu
+?/. 6 c.677G>T - r.(?) p.Trp226Leu
+?/. 6 c.677G>T - r.(?) p.Trp226Leu
+/. 6 c.677G>T - r.(?) p.(Trp226Leu)
-/. 6 c.680A>T - r.(?) p.His227Leu
+?/. 6 c.680A>T - r.(?) p.His227Leu
-?/. 6 c.680A>T - r.(?) p.His227Leu
+/. 6 c.680A>T - r.(?) p.(His227Leu)
+/. 6 c.680A>T - r.(?) p.(His227Leu)
+/. 6 c.680A>T - r.(?) p.(His227Leu)
+/. 6 c.680A>T - r.(?) p.(His227Leu)
+/. 6 c.680A>T - r.(?) p.(His227Leu)
+?/. 6 c.686T>C - r.(?) Phe229Ser
+?/. 6 c.686T>C - r.(?) Phe229Ser
+?/. 6 c.686T>C - r.(?) Phe229Ser
+?/. 6 c.686T>C - r.(?) Phe229Ser
?/. - c.706A>G VUS r.(?) p.(Ile236Val)
+?/. 6 c.758G>C - r.(?) Gly253Ala
+?/. 6 c.758G>C - r.(?) Gly253Ala
?/. 6 c.774C>G - r.(?) p.Ile258Met
?/. 6i c.789+104C>T - r.(?) p.?
?/. 6i c.790-229C>T - r.(?) p.?
?/. - c.970+1309C>T - - p.(=)
?/. - c.970+1309C>T - - p.(=)
-?/. - c.1061G>A likely benign r.(?) p.(Arg354His)
-?/. - c.1237C>T likely benign r.(?) p.(His413Tyr)
?/. 9i c.1261+103A>G - r.(?) p.?
?/. 9i c.1262-173C>A - r.(?) p.?
+/. 10 c.1286G>A - r.(?) p.(Arg429His)
+/. 10 c.1286G>A - r.(?) p.(Arg429His)
-/. 10 c.1286G>A - r.(?) p.Arg429His
+/. 10 c.1286G>A - r.(?) p.Arg429His
+/. 10 c.1286G>A - r.(?) p.Arg429His
+/. - c.1286G>A pathogenic r.(?) p.(Arg429His)
+/. 10 c.1286G>A - r.(?) p.(Arg429His)
+/. 10 c.1286G>A - r.(?) p.(Arg429His)
+/. 10 c.1286G>A - r.(?) p.(Arg429His)
+/. 10 c.1286G>A - r.(?) p.(Arg429His)
+/. 10 c.1286G>A - r.(?) p.(Arg429His)
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