Transcript #00013815 (NM_000530.6, MPZ gene)

Transcript name myelin protein zero
Gene name MPZ (myelin protein zero)
Chromosome 1
Transcript - NCBI ID NM_000530.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_000521.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

375 entries on 4 pages. Showing entries 1 - 100.
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-/. - c.-4602A>G r.(?) p.(=)
-/. - c.-4531_-4530dup r.(?) p.(=)
-?/. - c.-4508G>A r.(?) p.(=)
-?/. - c.-4494T>G r.(?) p.(=)
-/. - c.-4463C>T r.(?) p.(=)
?/. - c.-18C>T r.(?) p.(=)
-?/. - c.-10_-5dup r.(?) p.(=)
+/. - c.5_11del r.(?) p.(Ala2Glyfs*43)
-/. - c.24C>T r.(?) p.(Ser8=)
?/. 1 c.54C>T r.(=) p.(=)
+/. - c.59C>T r.(?) p.(Ser20Phe)
?/. - c.59C>T r.(?) p.(Ser20Phe)
+/. 1 c.59C>T r.(?) p.(Ser20Phe)
?/. 1i c.67+7G>T r.(=) p.(=)
-?/. - c.68-1068C>G r.(=) p.(=)
-/. - c.68-993C>T r.(=) p.(=)
-/. - c.68-991T>G r.(=) p.(=)
-?/. - c.68-989C>T r.(=) p.(=)
-?/. 2 c.78G>A r.(=) p.(=)
+/. 2 c.88_89delinsGGGGTTTACAC r.(?) p.(Ile30delinsGlyValTyrThr)
+/. - c.89T>C r.(?) p.(Ile30Thr)
+/. 2 c.89T>C r.(?) p.(Ile30Thr)
+/. 2 c.89T>G r.(?) p.(Ile30Ser)
+/. - c.90C>G r.(?) p.(Ile30Met)
+/. - c.90C>G r.(?) p.(Ile30Met)
+/. 2 c.90C>G r.(?) p.(Ile30Met)
+/. - c.94G>T r.(?) p.(Val32Phe)
+/. 2 c.98A>T r.(?) p.(Tyr33Phe)
+/. 2 c.101C>T r.(?) p.(Thr34Ile)
+/. - c.101C>T r.(?) p.(Thr34Ile)
+/. 2 c.103G>A r.(?) p.(Asp35Asn)
+/. 2 c.103G>T r.(?) p.(Asp35Tyr)
+/. - c.103G>T r.(?) p.(Asp35Tyr)
+/. 2 c.106A>T r.(?) p.(Arg36Trp)
+/. - c.106A>T r.(?) p.(Arg36Trp)
+/. 2 c.116A>C r.(?) p.(His39Pro)
+/. - c.116A>C r.(?) p.(His39Pro)
+/. 2 c.123_125del r.(?) p.(Val42del)
?/. - c.127G>C r.(?) p.(Gly43Arg)
+?/. - c.127G>C r.(?) p.(Gly43Arg)
+?/. - c.129_136del r.(?) p.(Ser44Aspfs*10)
+/. 2 c.130_137del r.(?) p.(Ser44Aspfs*10)
+/. 2 c.130_137del r.(?) p.(Ser44Aspfs*10)
+/. 2 c.131C>G r.(?) p.(Ser44Cys)
+/. 2 c.131C>T r.(?) p.(Ser44Phe)
+/. - c.131C>T r.(?) p.(Ser44Phe)
-/. - c.134G>A r.(?) p.(Arg45Gln)
+/. 2 c.143T>A r.(?) p.(Leu48Gln)
+/. 2 c.143T>C r.(?) p.(Leu48Pro)
+/. - c.143T>C r.(?) p.(Leu48Pro)
+/. 2 c.148T>G r.(?) p.(Cys50Gly)
+/. 2 c.149_151del r.(?) p.(Cys50del)
+?/. - c.151T>C r.(?) p.Ser51Pro
+?/. - c.152C>G r.(?) p.(Ser51Cys)
+/. 2 c.152C>T r.(?) p.(Ser51Phe)
+/. - c.152C>T r.(?) p.(Ser51Phe)
+/. 2 c.152C>T r.(?) p.(Ser51Phe)
?/. - c.159G>C r.(?) p.(Trp53Cys)
+/. 2 c.160T>C r.(?) p.(Ser54Pro)
+/. - c.160T>C r.(?) p.(Ser54Pro)
+/. 2 c.161C>G r.(?) p.(Ser54Cys)
+/. - c.161C>G r.(?) p.(Ser54Cys)
+/. 2 c.164G>T r.(?) p.(Ser55Ile)
+?/. - c.164G>T r.(?) p.(Ser55Ile)
+/. 2 c.166G>A r.(?) p.(Glu56Lys)
+/. - c.166G>A r.(?) p.(Glu56Lys)
+/. 2 c.172G>T r.(?) p.(Val58Phe)
+/. - c.172G>T r.(?) p.(Val58Phe)
+/. 2 c.173T>A r.(?) p.(Val58Asp)
+/. - c.173T>A r.(?) p.(Val58Asp)
+/. 2 c.178G>C r.(?) p.(Asp60His)
+/. - c.178G>C r.(?) p.(Asp60His)
+/. 2 c.181G>A r.(?) p.(Asp61Asn)
+/. - c.181G>A r.(?) p.(Asp61Asn)
+/. 2 c.182A>G r.(?) p.(Asp61Gly)
+/. - c.182A>G r.(?) p.(Asp61Gly)
+/. 2 c.184A>T r.(?) p.(Ile62Phe)
+/. - c.184A>T r.(?) p.(Ile62Phe)
?/. - c.186C>G r.(?) p.(Ile62Met)
+/. 2 c.186C>G r.(?) p.(Ile62Met)
+/. - c.186C>G r.(?) p.(Ile62Met)
+/. 2 c.188C>G r.(?) p.(Ser63Cys)
+/. - c.188C>G r.(?) p.(Ser63Cys)
+/. 2 c.188C>T r.(?) p.(Ser63Phe)
+/. - c.188C>T r.(?) p.(Ser63Phe)
+/. 2 c.188_190del r.(?) p.(Ser63del)
+/. 2 c.190_192del r.(?) p.(Phe64del)
+/. 2 c.193A>G r.(?) p.(Thr65Ala)
+/. - c.193A>G r.(?) p.(Thr65Ala)
+/. - c.194C>A r.(?) p.(Thr65Asn)
+/. 2 c.194C>T r.(?) p.(Thr65Ile)
+/. - c.194C>T r.(?) p.(Thr65Ile)
+/. 2 c.200G>C r.(?) p.(Arg67Pro)
+/. - c.200G>C r.(?) p.(Arg67Pro)
+/. 2 c.203A>G r.(?) p.(Tyr68Cys)
+/. - c.203A>G r.(?) p.(Tyr68Cys)
+/. - c.204C>A r.(?) p.(Tyr68*)
+/. 2 c.208C>T r.(?) p.(Pro70Ser)
+/. - c.208C>T r.(?) p.(Pro70Ser)
+/. 2 c.209C>T r.(?) p.(Pro70Leu)
Legend   How to query   « First ‹ Prev     1 2 3 4     Next › Last »


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.