Transcript #00016374 (NM_001084.4, PLOD3 gene)

Transcript name procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3
Gene name PLOD3 (procollagen-lysine, 2-oxoglutarate 5-dioxygenase 3)
Chromosome 7
Transcript - NCBI ID NM_001084.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001075.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

56 entries on 1 page. Showing entries 1 - 56.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Predicted     

Type/DNA     
-/. - c.-658A>G r.(?) p.(=) - -
-/. - c.123G>A r.(?) p.(Val41=) - -
-?/. - c.201+7dup r.(=) p.(=) - -
?/. - c.215G>C r.(?) p.(Gly72Ala) - -
-?/. - c.477G>A r.(?) p.(Thr159=) - -
?/. - c.484C>T r.(?) p.(Arg162Cys) - -
-/. - c.570C>T r.(=) p.(=) - -
-/. - c.570C>T r.(?) p.(Asp190=) - -
-/. - c.570C>T r.(=) p.(=) - -
?/. - c.571G>A r.(?) p.(Asp191Asn) - -
?/. - c.582C>G r.(?) p.(Phe194Leu) - -
-?/. - c.616-17C>T r.(=) p.(=) - -
-?/. - c.616-14C>T r.(=) p.(=) - -
+/. - c.668A>G r.(?) p.(Asn223Ser) - -
+/. - c.668A>G r.(?) p.(Asn223Ser) - -
?/. - c.670G>A r.(?) p.(Gly224Arg) - -
+/. - c.809C>T r.(?) p.(Pro270Leu) - -
-?/. - c.812A>G r.(?) p.(Asn271Ser) - -
-/. - c.880-16G>A r.(=) p.(=) - -
?/. - c.887C>G r.(?) p.(Pro296Arg) - -
-/. - c.939C>T r.(?) p.(Arg313=) - -
-?/. - c.961C>T r.(?) p.(Leu321=) - -
-?/. - c.975C>T r.(?) p.(Pro325=) - -
-/. - c.993C>T r.(?) p.(Phe331=) - -
-?/. - c.1128G>A r.(?) p.(Met376Ile) - -
-?/. - c.1144G>C r.(?) p.(Asp382His) - -
-/. - c.1144G>C r.(?) p.(Asp382His) - -
-/. - c.1179C>T r.(?) p.(Ala393=) - -
-?/. - c.1232+8A>C r.(=) p.(=) - -
-/. - c.1232+20C>T r.(=) p.(=) - -
-/. - c.1233-4G>A r.spl? p.? - -
-?/. - c.1290C>T r.(?) p.(Gly430=) - -
+/. - c.1354C>T r.(?) p.(Arg452*) - -
-?/. - c.1359-19G>A r.(=) p.(=) - -
-?/. - c.1359-18C>T r.(=) p.(=) - -
-/. - c.1402C>G r.(?) p.(Arg468Gly) - -
?/. - c.1466C>T r.(?) p.(Pro489Leu) - -
-/. - c.1500+6C>T r.(=) p.(=) - -
-/. - c.1512C>T r.(?) p.(Leu504=) - -
-?/. - c.1614C>T r.(?) p.(Val538=) - -
-/. - c.1684-13G>A r.(=) p.(=) - -
-?/. - c.1789-8G>A r.(=) p.(=) - -
-?/. - c.1797G>A r.(?) p.(Arg599=) - -
-?/. - c.1797G>A r.(?) p.(Arg599=) - -
-?/. - c.1812C>T r.(?) p.(Tyr604=) - -
+/. - c.1880T>C r.(?) p.(.Leu627Pro) - -
-/. - c.1886C>T r.(?) p.(Thr629Met) - -
+/. - c.1935+1G>A r.spl p.? - -
-?/. - c.1936-3C>T r.spl? p.? - -
-?/. - c.1966T>C r.(?) p.(Tyr656His) - -
-/. - c.1977C>T r.(?) p.(Asp659=) - -
-/. - c.1986G>A r.(?) p.(Pro662=) - -
-?/. - c.2013C>T r.(?) p.(Ser671=) - -
-/. - c.2061+12T>C r.(=) p.(=) - -
+/. - c.2071del r.(?) p.(Cys691Alafs*9) - -
?/. - c.2209G>A r.(?) p.(Asp737Asn) - -
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