Transcript #00007761 (NM_000138.4, FBN1 gene)

Transcript name fibrillin 1
Gene name FBN1 (fibrillin 1)
Chromosome 15
Transcript - NCBI ID NM_000138.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000129.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1446 entries on 15 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-181-280C>G r.(=) p.(=)
+?/. _1_15i c.-395_(1837+1_1838-1){0} r.0? p.0?
+/. _1_66_ c.-395_*2684{0} r.0 p.0
+?/. - c.32T>G r.(?) p.(Leu11Arg)
?/. - c.34G>A r.(?) p.(Gly12Arg)
?/. - c.50T>C r.(?) p.Leu17Ser
?/. 2 c.50T>C r.(?) p.Leu17Ser
?/. 2 c.56C>T r.(?) p.Ser19Phe
?/. - c.59A>G r.(?) p.(Tyr20Cys)
?/. 2 c.59A>G r.(?) p.Tyr20Cys
?/. - c.59A>G r.(?) p.(Tyr20Cys)
-?/. - c.79G>A r.(?) p.(Ala27Thr)
-?/. 2 c.79G>A r.(?) p.Ala27Thr
-?/. - c.79G>A r.(?) p.(Ala27Thr)
-?/. - c.79G>A r.(?) p.(Ala27Thr)
?/. 2 c.83A>G r.(?) p.Asn28Ser
?/. - c.106G>A r.(?) p.(Glu36Lys)
-?/. 2 c.124G>C r.(?) p.Ala42Pro
?/. - c.133A>G r.(?) p.(Arg45Gly)
?/. 2 c.137G>A r.(?) p.Gly46Asp
?/. 2 c.139G>A r.(?) p.Gly47Ser
?/. 2 c.149A>T r.(?) p.His50Leu
-?/. - c.150C>T r.(?) p.(His50=)
?/. 2 c.153C>A r.(?) p.Asp51Glu
-/. - c.156G>T r.(?) p.(Ala52=)
+/. - c.164+1G>A r.spl? p.?
-?/. - c.164+10C>G r.(=) p.(=)
-?/. - c.164+130G>A r.(=) p.(=)
+/. 2 c.175T>C r.(?) p.(Cys59Arg)
+/. - c.184C>T r.(?) p.(Arg62Cys)
+?/. 3 c.184C>T r.(?) p.Arg62Cys
+/. - c.184C>T r.(?) p.(Arg62Cys)
+?/. - c.184C>T r.(?) p.(Arg62Cys)
+/. - c.184C>T r.(?) p.(Arg62Cys)
+/. - c.184C>T r.(?) p.(Arg62Cys)
+/. - c.184C>T r.(?) p.(Arg62Cys)
-?/. 3 c.185G>A r.(?) p.Arg62His
+?/. 3 c.188A>G r.(?) p.Tyr63Cys
+?/. - c.199T>C r.(?) p.(Cys67Arg)
+?/. 3 c.202T>A r.(?) p.Cys68Ser
+?/. 3 c.212G>C r.(?) p.Trp71Ser
?/. 3 c.223C>T r.(?) p.Pro75Ser
-?/. 3 c.229G>A r.(?) p.Gly77Arg
+?/. 3 c.239G>A r.(?) p.Cys80Tyr
+/. - c.247+1G>A r.spl? p.?
-?/. - c.248-17C>G r.(=) p.(=)
?/. 4 c.260A>G r.(?) p.His87Arg
+?/. 4 c.266G>A r.(?) p.Cys89Tyr
+?/. 4 c.266G>C r.(?) p.Cys89Ser
-?/. - c.273T>C r.(?) p.(Asp91=)
+?/. 4 c.281G>T r.(?) p.Cys94Phe
?/. - c.284C>T r.(?) p.(Ser95Leu)
?/. - c.284C>T r.(?) p.(Ser95Leu)
?/. 4 c.287G>C r.(?) p.Arg96Thr
+?/. 4 c.299G>A r.(?) p.Cys100Tyr
+?/. 4 c.299G>T r.(?) p.Cys100Phe
+?/. - c.305G>T r.(?) p.(Cys102Phe)
+?/. 4 c.305G>T r.(?) p.Cys102Phe
+?/. - c.306C>G r.(?) p.(Cys102Trp)
-/. - c.306C>T r.(?) p.(Cys102=)
-/. - c.306C>T r.(=) p.(=)
-?/. - c.306C>T r.(?) p.(Cys102=)
?/. - c.328T>C r.(?) p.(Ser110Pro)
+?/. 4 c.338C>G r.(?) p.Ser113Cys
+?/. - c.338C>G r.(?) p.(Ser113Cys)
-?/. - c.346+262G>A r.(=) p.(=)
?/. 5 c.353A>G r.(?) p.His118Arg
+?/. - c.364C>T r.(?) p.(Arg122Cys)
+?/. - c.364C>T r.(?) p.(Arg122Cys)
+/. 5 c.364C>T r.(?) p.Arg122Cys
+/. 5 c.368G>A r.(?) p.Cys123Tyr
-?/. 5 c.370A>G r.(?) p.Met124Val
?/. 5 c.379G>C r.(?) p.Gly127Arg
+?/. 5 c.385T>G r.(?) p.Cys129Gly
+/. 5 c.385T>G r.(?) p.(Cys129Gly)
+?/. - c.407G>T r.(?) p.(Cys136Phe)
?/. 5 c.412A>C r.(?) p.Lys138Gln
?/. 5 c.415G>C r.(?) p.Gly139Arg
+/. 5 c.416G>T r.(?) p.(Gly139Val)
+?/. - c.434G>A r.(?) p.(Cys145Tyr)
+?/. 5 c.434G>A r.(?) p.Cys145Tyr
+/. - c.439C>T r.(?) p.(Gln147Ter)
-?/. - c.442+15G>T r.(=) p.(=)
-?/. - c.442+85C>G r.(=) p.(=)
-/. - c.443-35A>G r.(=) p.(=)
-?/. - c.443-13C>T r.(=) p.(=)
+?/. - c.449G>A r.(?) p.(Cys150Tyr)
+?/. 6 c.454A>T r.(?) p.Ser152Cys
+?/. 6 c.461G>C r.(?) p.Cys154Ser
?/. 6 c.466A>G r.(?) p.Asn156Asp
+?/. 6 c.478T>C r.(?) p.Cys160Arg
+?/. - c.479G>A r.(?) p.(Cys160Tyr)
+/. 6 c.479G>A r.(?) p.(Cys160Tyr)
+/. 6 c.479G>A r.(?) p.(Cys160Tyr)
+/. - c.479G>A r.(?) p.(Cys160Tyr)
?/. 6 c.484G>A r.(?) p.Ala162Thr
+/. - c.493C>T r.(?) p.(Arg165Ter)
?/. 6 c.494G>C r.(?) p.Arg165Pro
+?/. 6 c.497G>C r.(?) p.Cys166Ser
+/. - c.509A>G r.(?) p.(Tyr170Cys)
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