Transcript #00002740

Transcript name transcript variant 1
Gene name AR (androgen receptor)
Chromosome X
Transcript - NCBI ID NM_000044.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000035.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

1445 entries on 15 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Haplotype     

Class.     

RNA change     

Protein     

P-domain     

Enzyme activity     
+/. 1 c.1500T>? - - r.(?) p.(=) N-term -
+/. 1i_8 c.1617-?_(*436_?)del - - r.(?) p.? - Bmax zero
+/. 2i_8 c.1769-?_(*436_?)del - - r.(?) p.? - -
+/. 3i_8 c.1886-?_(*436_?)del - - r.(?) p.? LBD Bmax zero
+/. ? c.? - - r.(?) p.? - -
+/. 1 c.? - - r.(?) p.(Gly489fs*) N-term Bmax low
+/. 2i c.? - - r.(?) p.? - -
+/. 2i c.? - - r.spl? p.? - Bmax zero
+/. 2i c.? - - r.spl? p.? - -
+/. 3 c.? - - r.(?) p.? DBD Bmax zero
+/. 3 c.? - - r.(?) p.? DBD -
+/. 4 c.? - - r.(?) p.(Val716*) LBD -
+/. 1 c.? - - r.(?) 142 N-term -
+/. 3 c.? - - r.(?) p.? DBD -
+/. 5 c.? - - r.(?) p.(Tyr?Arg) LBD Bmax zero
+/. 5 c.? - - r.(?) p.(Arg761fs*) LBD Bmax zero
+/. 7 c.? - - r.(?) p.(Asn849fs*) LBD -
+/. 7 c.? - - r.(?) p.(Val867fs*) LBD -
+/. 7 c.? - - r.(?) p.(Val867fs*) LBD -
+/+ 8 c.? - - r.(?) p.(Phe917*) LBD -
+/+ 1 c.? - - r.(?) p.(=) - -
+/. 1 c.? - - r.(?) p.(Ser83fs*) N-term Bmax zero; kD zero
+/. ? c.? - - r.(?) p.? - -
-/- 8 c.? - - r.(?) p.? 3' UTR -
+/. 2 c.? - - r.(?) p.? - -
+/+ 3 c.? - - r.(?) p.? DBD Bmax high; kD normal
+/. 4 c.? - - r.(?) p.? LBD -
+/. 7 c.? - - r.(?) p.? LBD -
+/. 1 c.? - - r.(?) p.(Arg485Cys) N-term -
+/. 1 c.? - - r.(?) p.(Arg485Cys) N-term -
+/. 1 c.? - - r.(?) p.(Arg485Cys) N-term -
+/. 1 c.? - - r.(?) p.(Arg485Thr) N-term -
+/. 5 c.? - - r.(?) p.(=) LBD -
+/. 8 c.? - - r.(?) p.(Gln828*) N-term -
+/. 2 c.? - - r.(?) p.? - -
+/. 2 c.? - - r.(?) p.? - -
+/. 1 c.?C>T - - r.(?) p.(=) N-term -
+/. 5 c.?del - - r.(?) p.? LBD Bmax zero
+/. 1_8 c.(?_-1115)_(*436_?)del - - r.0 p.0 - Bmax zero
+/. 1_8 c.(?_-1115)_(*436_?)del - - r.0 p.0 - Bmax zero
+/. 1_8 c.(?_-1115)_(*436_?)del - - r.0 p.0 - Bmax zero
+/. 1_8 c.(?_-1115)_(*436_?)del - - r.0 p.0 - Bmax zero
+/. 1 c.-912C>A - - r.(?) p.(=) - -
+/. 1 c.-800G>T - - r.(?) p.? - -
+/. 1 c.(1580_1581)G>A - - r.(?) p.(Trp527*) N-term -
+/. 2 c.(1630_1660)del(17) - - r.? p.? DBD -
+/. 2i c.(1768+1_1769-1)? - - r.1768_1769ins1769-1_1769-1 p.Glu589_Gly590ins23 - -
+/+ 2 c.(1768+1_1769-1)? - - r.1768_1769ins1769-1_1769-1 p.Glu589_Gly590ins23 - -
+/. 2i c.(1768+1_1769-1)del - - r.spl p.? - Bmax normal; kD high
+/. 3 c.(1768+1_1886-1)? - - r.1769_1885del p.? - -
+/. 1 c.4G>A - - r.(?) p.(Glu2Lys) N-term Bmax low; kD high
+/+ 1 c.4G>A - - r.(?) p.(Glu2Lys) N-term k high
+/. 1 c.19delC - - r.(?) p.(Leu7fs*) N-term -
+/. 1 c.39_42dup - - r.(?) p.(Pro15fs*) N-term -
+/. 1 c.82C>T - - r.(?) p.(Q28X - -
+/. 1 c.115_117del - - r.(?) p.(Pro39del) N-term -
+/. 1 c.118delA - - r.(?) p.(Arg40fs*) N-term -
+/. 1 c.125delC - - r.(?) p.(Pro42fs*) N-term Bmax zero
+/. 1 c.128A>G - - r.(?) p.(Glu43Gly) N-term -
+/. 1 c.161T>C - - r.(?) p.(Leu54Ser) N-term -
+/. 1 c.163_164insC - - r.(?) p.(Leu55fs*) N-term -
+/. 1 c.170T>A - - r.(?) p.(Leu57Gln) N-term -
+/. 1 c.170T>A - - r.(?) p.(Leu57Gln) N-term -
+/. 1 c.170T>A - - r.(?) p.(Leu57Gln) N-term -
+/. 1 c.170_172del - - r.(?) p.(Leu57del) N-term -
+/. 1 c.170_172dup - - r.(?) p.(Leu57dup) N-term -
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - Bmax zero
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - Bmax v low
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - Bmax low; k normal
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - -
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - -
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - Bmax normal
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - -
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - Bmax normal; kD normal
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - -
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - -
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - Bmax low; kD normal
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - -
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - Bmax low
?/. 1 c.174_239= CAG[22] - r.(?) p.(=) - Bmax low
+/. 1 c.173A>T - - r.(?) p.(Gln58Leu) N-term -
?/. 1 c.173A>T - - r.(?) p.(Gln58Leu) N-term -
+/. 1 c.173A>T - - r.(?) p.(Gln58Leu) N-term -
+/. 1 c.173A>T - - r.(?) p.(Gln58Leu) N-term -
+/. 1 c.173A>T - - r.(?) p.(Gln58Leu) DBD -
+/. 1 c.173A>T - - r.(?) p.(Gln58Leu) N-term -
+/. 1 c.175C>T - - r.(?) p.(Gln59*) N-term Bmax zero
-/. - c.177_182del - benign r.(?) p.(Gln79_Gln80del) - -
-/. - c.177_182del - benign r.(?) p.(Gln79_Gln80del) - -
+/+ 1 c.178C>T - - r.(?) p.(Gln60*) N-term -
+/+ 1 c.178C>T - - r.(?) p.(Gln60*) N-term Bmax low; kD normal; k high
+/. 1 c.179dupA - - r.(?) p.(Gln60fs*) N-term -
+/. 1 c.188A>G - - r.(?) p.(Gln64Arg) N-term -
+/. 1 c.196C>T - - r.(?) p.(Gln67*) N-term -
?/. 1 c.198_239del CAG[8] - r.(?) p.(Gln67_Gln80del) - -
+/. 1 c.199C>T - - r.(?) p.(Gln67*) - -
+/. 1 c.208C>T - - r.(?) p.(Gln70*) N-term -
?/. 1 c.210_239del CAG[12] - r.(?) p.(Gln71_Gln80del) - Bmax normal; kD high; thermolabile
?/. 1 c.210_239del CAG[12] - r.(?) p.(Gln71_Gln80del) - Bmax zero
+/. 1 c.212A>G - - r.(?) p.(Gln71Arg) N-term -
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