Transcript #00013812 (NM_002437.4, MPV17 gene)

Transcript name MpV17 mitochondrial inner membrane protein
Gene name MPV17 (MpV17 mitochondrial inner membrane protein)
Chromosome 2
Transcript - NCBI ID NM_002437.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_002428.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

27 entries on 1 page. Showing entries 1 - 27.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-3835C>A r.(?) p.(=)
-?/. - c.-3663C>T r.(?) p.(=)
+/. 2i_3 c.71-2_79delins(4) r.spl p.?
+/? 2i_8_ c.71-?_*420+?del r.? p.?
+?/. - c.122G>A r.(?) p.(Arg41Gln)
+/. - c.122G>A r.(?) p.(Arg41Gln)
+/. - c.148C>T r.(?) p.(Arg50Trp)
-?/. - c.164T>C r.(?) p.(Val55Ala)
+?/. - c.191C>G r.(?) p.(Pro64Arg)
+/. - c.206G>A r.206g>a p.(Trp69*)
+/. 4 c.275A>G r.(?) p.(Asp92Gly)
+?/. - c.278A>C r.(?) p.(Gln93Pro)
+/. - c.284dup r.(?) p.(Phe96Leufs*17)
+?/. - c.284dup r.(?) p.(Phe96Leufs*17)
+/. 5 c.284dup r.(?) p.(Phe96Leufs*17)
+/. 5 c.284G>A r.(?) p.(Gly95Asp)
?/. - c.293C>T r.(?) p.(Pro98Leu)
+/. 5 c.293del r.(?) p.(Pro98Argfs*4)
+/. 5 c.297T>G r.(?) p.(Cys99Trp)
-/. - c.375+49dup r.(=) p.(=)
+?/. 5i c.376-9T>G r.(376_408del) p.(Asp126_Tyr136del)
+?/. - c.376-9T>G r.376_408del p.(=)
+/. 5i c.376-2A>C r.spl p.?
+/. 5i c.376-1G>A r.spl p.?
+/. 7 c.461G>T r.spl? p.(Arg154Met)
-?/. - c.*3800G>A r.(=) p.(=)
-?/. - c.*4180dup r.(?) p.(=)
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