Transcript #00015985 (NM_000319.4, PEX5 gene)

Transcript name transcript variant 2
Gene name PEX5 (peroxisomal biogenesis factor 5)
Chromosome 12
Transcript - NCBI ID NM_000319.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000310.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

47 entries on 1 page. Showing entries 1 - 47.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.115C>G r.(?) p.(Pro39Ala)
?/. - c.118T>G r.(?) p.(Trp40Gly)
-?/. - c.147+32_147+121del r.(=) p.(=)
-?/. - c.147+33A>G r.(=) p.(=)
-/. - c.147+33A>G r.(=) p.(=)
-/. - c.147+77_147+121del r.(=) p.(=)
-/. - c.147+77_147+121del r.(=) p.(=)
-?/. - c.147+77_147+121del r.(=) p.(=)
-/. - c.147+77_147+121del r.(=) p.(=)
+/. - c.238C>T r.(?) p.(Gln80Ter)
?/. - c.452C>G r.(?) p.(Pro151Arg)
+/. - c.545_548dup r.(?) p.(Trp184Serfs*4)
+/. 5 c.548_552-55delins(238)inv r.? p.?
?/. - c.604G>C r.(?) p.(Val202Leu)
-?/. - c.604G>C r.(?) p.(Val202Leu)
+?/. - c.709C>T r.(?) p.(Arg237Ter)
-?/. - c.754-4G>A r.spl? p.?
+/. 7 c.826C>T r.(?) p.(Arg276*)
+/. 10 c.1066C>T r.(?) p.(Gln356*)
+/. 11 c.1220A>G r.(?) p.(Asn407Ser)
+/. 12 c.1234C>T r.(?) p.(Arg412*)
+/. 12 c.1255C>T r.1255c>u p.Arg419*
?/. - c.1370+1G>A r.spl? p.?
+/. - c.1370+5G>A r.spl? p.?
+/. 12 c.1370+5G>A r.spl p.?
-/. - c.1370+22G>A r.(=) p.(=)
-/. - c.1370+22G>A r.(=) p.(=)
?/. - c.1414C>T r.(?) p.(Arg472Trp)
-?/. - c.1415G>A r.(?) p.(Arg472Gln)
-?/. - c.1524C>T r.(?) p.(Ser508=)
+/. 14 c.1537-2A>C r.[1537_1694del,1537_1561del] p.?
-?/. - c.1543T>C r.(?) p.(Leu515=)
+/. 14 c.1554T>G r.1554u>g p.Asn518Lys
+/. 14 c.1554T>G r.(?) p.(Asn518Lys)
+/. - c.1645C>T r.(?) p.(Arg549Trp)
+/. 14 c.1645C>T r.(?) p.(Arg549Trp)
-?/. - c.1683C>T r.(?) p.(Leu561=)
?/. - c.1699G>A r.(?) p.(Ala567Thr)
?/. - c.1705G>T r.(?) p.(Glu569Ter)
-?/. - c.1747G>A r.(?) p.(Gly583Ser)
+/. 15 c.1775C>G r.(?) p.(Ser592Trp)
+/. 15 c.1775C>G r.(?) p.(Ser592Trp)
+/. - c.1775C>T r.(?) p.(Ser592Leu)
?/. - c.1790G>A r.(?) p.(Ser597Asn)
?/. - c.1798C>T r.(?) p.(Arg600Cys)
-?/. - c.1850C>T r.(?) p.(Ala617Val)
?/. - c.*20G>C r.(=) p.(=)
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