Transcript #00006731 (NM_001390.4, DTNA gene)

Transcript name transcript variant 1
Gene name DTNA (dystrobrevin, alpha)
Chromosome 18
Transcript - NCBI ID NM_001390.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_001381.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

128 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.-76383T>G r.(?) p.(=)
?/. - c.17G>C r.(?) p.(Gly6Ala)
-?/. - c.51G>A r.(?) p.(Gln17=)
-?/. - c.68-8_68-7insT r.(=) p.(=)
-?/. - c.92G>A r.(?) p.(Arg31Gln)
-?/. - c.126G>A r.(?) p.(Arg42=)
-?/. - c.126G>A r.(?) p.(Arg42=)
-?/. - c.126G>A r.(?) p.(Arg42=)
?/. - c.153C>G r.(?) p.(His51Gln)
?/. - c.176T>C r.(?) p.(Ile59Thr)
?/. - c.177A>G r.(?) p.(Ile59Met)
-/. - c.210G>A r.(?) p.(Leu70=)
-?/. - c.210G>A r.(?) p.(Leu70=)
-?/. - c.229A>G r.(?) p.(Asn77Asp)
-?/. - c.231C>T r.(?) p.(Asn77=)
?/. - c.239G>A r.(?) p.(Arg80His)
-?/. - c.243A>G r.(?) p.(Leu81=)
-/. - c.243A>G r.(?) p.(Leu81=)
-?/. - c.243A>G r.(?) p.(Leu81=)
+?/. 3 c.257C>T r.(?) p.(Ser86Phe)
?/. - c.259A>G r.(?) p.(Thr87Ala)
?/. - c.316C>G r.(?) p.(Gln106Glu)
-?/. - c.316C>G r.(?) p.(Gln106Glu)
-?/. - c.330C>T r.(?) p.(Leu110=)
-?/. - c.354G>A r.(?) p.(Ala118=)
+/. 4 c.362C>T r.spl? p.(Pro121Leu)
?/. - c.398A>T r.(?) p.(Lys133Ile)
-?/. - c.482T>C r.(?) p.(Val161Ala)
-?/. - c.482T>C r.(?) p.(Val161Ala)
-?/. - c.537G>A r.(?) p.(Thr179=)
-?/. - c.537G>T r.(?) p.(Thr179=)
?/. - c.562G>A r.(?) p.(Gly188Ser)
-?/. - c.603+15T>C r.(=) p.(=)
-?/. - c.604-16G>T r.(=) p.(=)
-?/. - c.604-14G>T r.(=) p.(=)
-?/. - c.604-14G>T r.(=) p.(=)
-/. - c.604-14G>T r.(=) p.(=)
?/. - c.614C>T r.(?) p.(Thr205Met)
?/. - c.614C>T r.(?) p.(Thr205Met)
-?/. - c.636G>T r.(?) p.(Thr212=)
-?/. - c.709+8G>C r.(=) p.(=)
-?/. - c.720G>A r.(?) p.(Pro240=)
?/. - c.784C>T r.(?) p.(His262Tyr)
?/. - c.784C>T r.(?) p.(His262Tyr)
?/. - c.786C>A r.(?) p.(His262Gln)
-?/. - c.829G>A r.(?) p.(Gly277Ser)
-?/. - c.877-8C>G r.(=) p.(=)
-?/. - c.933C>T r.(?) p.(Ser311=)
?/. - c.937C>T r.(?) p.(Arg313Cys)
?/. - c.937C>T r.(?) p.(Arg313Cys)
?/. - c.955A>G r.(?) p.(Met319Val)
-?/. - c.978G>A r.(?) p.(Lys326=)
-?/. - c.978G>A r.(?) p.(Lys326=)
-/. - c.1000G>A r.(?) p.(Val334Ile)
-?/. - c.1000G>A r.(?) p.(Val334Ile)
-?/. - c.1000G>A r.(?) p.(Val334Ile)
-?/. - c.1002-4A>G r.spl? p.?
+?/. - c.1011-1G>C r.spl? p.?
?/. - c.1016C>T r.(?) p.(Pro339Leu)
?/. - c.1016C>T r.(?) p.(Pro339Leu)
?/. - c.1018A>G r.(?) p.(Arg340Gly)
-?/. - c.1092G>A r.(?) p.(Arg364=)
-?/. - c.1094+1368G>C r.(=) p.(=)
-?/. - c.1094+1371C>T r.(=) p.(=)
?/. - c.1094+1400A>G r.(=) p.(=)
-?/. - c.1094+1768A>G r.(=) p.(=)
-?/. - c.1094+1777T>A r.(=) p.(=)
-?/. - c.1094+1787C>T r.(=) p.(=)
-?/. - c.1094+1787C>T r.(=) p.(=)
-?/. - c.1094+1805C>T r.(=) p.(=)
+?/. - c.1094+1813G>A r.(=) p.(=)
-?/. - c.1095-8T>C r.(=) p.(=)
?/. - c.1173-28C>T r.(=) p.(=)
-?/. - c.1216C>T r.(?) p.(His406Tyr)
-?/. - c.1216C>T r.(?) p.(His406Tyr)
-?/. - c.1323G>A r.(?) p.(Ala441=)
-?/. - c.1323G>A r.(?) p.(Ala441=)
-?/. - c.1344C>A r.(?) p.(Ser448=)
-?/. - c.1350G>A r.(?) p.(Ser450=)
-?/. - c.1354-19T>C r.(=) p.(=)
-/. - c.1354-19T>C r.(=) p.(=)
-/. - c.1357C>A r.(?) p.(Pro453Thr)
-?/. - c.1360C>G r.(?) p.(Pro454Ala)
?/. - c.1399G>A r.(?) p.(Asp467Asn)
?/. - c.1403C>T r.(?) p.(Ala468Val)
-?/. - c.1451+17G>A r.(=) p.(=)
?/. - c.1571G>A r.(?) p.(Arg524His)
?/. - c.1571G>A r.(?) p.(Arg524His)
?/. - c.1571G>A r.(?) p.(Arg524His)
?/. - c.1571G>A r.(?) p.(Arg524His)
?/. - c.1590G>C r.(?) p.(Gln530His)
-/. - c.1662+14G>A r.(=) p.(=)
-?/. - c.1662+2029T>C r.(=) p.(=)
-/. - c.1662+2128G>A r.(=) p.(=)
-?/. - c.1663-10G>T r.(=) p.(=)
-/. - c.1663-10G>T r.(=) p.(=)
-?/. - c.1663-10G>T r.(=) p.(=)
-?/. - c.1663-8C>T r.(=) p.(=)
?/. - c.1684C>T r.(?) p.(Arg562Cys)
-?/. - c.1685G>A r.(?) p.(Arg562His)
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