CHAIN 1 2492 Transcriptional regulator ATRX.
/FTId=PRO_0000074301.
DOMAIN 159 296 ADD.
DOMAIN 1581 1768 Helicase ATP-binding.
DOMAIN 2025 2205 Helicase C-terminal.
ZN_FING 170 206 GATA-type; atypical.
ZN_FING 217 272 PHD-type; atypical.
NP_BIND 1594 1601 ATP (Potential).
MOTIF 581 594 PxVxL motif.
MOTIF 1719 1722 DEGH box.
COMPBIAS 745 750 Poly-Ser.
COMPBIAS 1151 1156 Poly-Ser.
COMPBIAS 1166 1169 Poly-Lys.
COMPBIAS 1202 1206 Poly-Ser.
COMPBIAS 1259 1266 Poly-Asp.
COMPBIAS 1443 1466 Poly-Glu.
COMPBIAS 1499 1502 Poly-Glu.
COMPBIAS 1929 1939 Poly-Lys.
COMPBIAS 1941 1948 Poly-Ser.
COMPBIAS 2222 2225 Poly-Lys.
COMPBIAS 2262 2265 Poly-Glu.
COMPBIAS 2420 2425 Poly-Gln.
MOD_RES 34 34 Phosphoserine.
MOD_RES 71 71 Phosphoserine.
MOD_RES 74 74 Phosphoserine.
MOD_RES 87 87 Phosphothreonine.
MOD_RES 89 89 Phosphotyrosine.
MOD_RES 92 92 Phosphoserine (By similarity).
MOD_RES 112 112 Phosphoserine.
MOD_RES 594 594 Phosphoserine.
MOD_RES 598 598 Phosphoserine.
MOD_RES 634 634 Phosphoserine.
MOD_RES 674 674 Phosphothreonine.
MOD_RES 675 675 Phosphoserine.
MOD_RES 677 677 Phosphoserine.
MOD_RES 729 729 Phosphoserine.
MOD_RES 731 731 Phosphoserine.
MOD_RES 849 849 Phosphoserine.
MOD_RES 850 850 Phosphoserine.
MOD_RES 871 871 Phosphoserine.
MOD_RES 875 875 Phosphoserine.
MOD_RES 876 876 Phosphoserine.
MOD_RES 967 967 N6-acetyllysine.
MOD_RES 1061 1061 Phosphoserine (By similarity).
MOD_RES 1348 1348 Phosphoserine.
MOD_RES 1352 1352 Phosphoserine.
MOD_RES 1527 1527 Phosphoserine.
MOD_RES 1991 1991 Phosphoserine.
MOD_RES 1992 1992 Phosphoserine.
MOD_RES 1996 1996 Phosphoserine.
MOD_RES 2220 2220 Phosphoserine.
VAR_SEQ 1 204 Missing (in isoform 1).
/FTId=VSP_000575.
VAR_SEQ 1 117 Missing (in isoform 2 and isoform 5).
/FTId=VSP_000574.
VAR_SEQ 124 162 Missing (in isoform 6).
/FTId=VSP_015499.
VAR_SEQ 124 161 Missing (in isoform 3 and isoform 5).
/FTId=VSP_000576.
VAR_SEQ 573 601 Missing (in isoform 6).
/FTId=VSP_015500.
VAR_SEQ 1419 2492 Missing (in isoform 6).
/FTId=VSP_015501.
VARIANT 175 175 G -> E (in ATRX).
/FTId=VAR_012113.
VARIANT 178 198 Missing (in ATRX).
/FTId=VAR_012114.
VARIANT 179 179 N -> S (in ATRX).
/FTId=VAR_012115.
VARIANT 190 190 P -> A (in ATRX).
/FTId=VAR_001226.
VARIANT 190 190 P -> L (in ATRX).
/FTId=VAR_012116.
VARIANT 190 190 P -> S (in ATRX).
/FTId=VAR_012117.
VARIANT 192 192 L -> F (in ATRX).
/FTId=VAR_001227.
VARIANT 194 194 V -> I (in ATRX).
/FTId=VAR_012118.
VARIANT 200 200 C -> S (in ATRX).
/FTId=VAR_001228.
VARIANT 219 219 Q -> P (in ATRX).
/FTId=VAR_012119.
VARIANT 220 220 C -> R (in ATRX).
/FTId=VAR_001229.
VARIANT 220 220 C -> Y (in MRXSHF1).
/FTId=VAR_032625.
VARIANT 222 222 W -> S (in ATRX).
/FTId=VAR_001230.
VARIANT 243 243 C -> F (in ATRX).
/FTId=VAR_001231.
VARIANT 246 246 R -> C (in ATRX).
/FTId=VAR_001232.
VARIANT 246 246 R -> L (in ATRX).
/FTId=VAR_010914.
VARIANT 249 249 G -> C (in ATRX).
/FTId=VAR_012120.
VARIANT 249 249 G -> D (in ATRX).
/FTId=VAR_001233.
VARIANT 409 409 L -> S (in MRXSHF1).
/FTId=VAR_032626.
VARIANT 545 545 Q -> E (in dbSNP:rs35738915).
/FTId=VAR_055939.
VARIANT 596 596 S -> P (in dbSNP:rs1051678).
/FTId=VAR_016914.
VARIANT 740 740 E -> G (in dbSNP:rs1051680).
/FTId=VAR_016915.
VARIANT 929 929 Q -> E (in dbSNP:rs3088074).
/FTId=VAR_023438.
VARIANT 1538 1538 V -> G (in ATRX; unknown pathological
significance).
/FTId=VAR_012121.
VARIANT 1552 1552 V -> F (in ATRX).
/FTId=VAR_012122.
VARIANT 1609 1609 H -> R (in ATRX).
/FTId=VAR_001234.
VARIANT 1614 1614 C -> R (in ATRX).
/FTId=VAR_001235.
VARIANT 1621 1621 T -> M (in ATRX).
/FTId=VAR_016916.
VARIANT 1645 1645 L -> S (in ATRX).
/FTId=VAR_012123.
VARIANT 1650 1650 K -> N (in ATRX).
/FTId=VAR_001236.
VARIANT 1713 1713 P -> S (in ATRX; without alpha-
thalassemia).
/FTId=VAR_012124.
VARIANT 1742 1742 R -> K (in ATRX; atypical; patients
presents spastic paraplegia at birth).
/FTId=VAR_012125.
VARIANT 1847 1847 Y -> C (in ATRX).
/FTId=VAR_012126.
VARIANT 1860 1860 N -> S (rare polymorphism;
dbSNP:rs45439799).
/FTId=VAR_001237.
VARIANT 2035 2035 D -> V (in ATRX).
/FTId=VAR_001238.
VARIANT 2050 2050 I -> T (in MRXSHF1; originally reported
as Carpenter-Waziri syndrome).
/FTId=VAR_012127.
VARIANT 2084 2084 Y -> H (in ATRX).
/FTId=VAR_001239.
VARIANT 2131 2131 R -> Q (in MRXSHF1; originally reported
as Juberg-Marsidi syndrome).
/FTId=VAR_001240.
VARIANT 2163 2163 Y -> C (in ATRX).
/FTId=VAR_001241.
VARIANT 2271 2271 R -> G (in MRXSHF1).
/FTId=VAR_032627.
CONFLICT 879 879 A -> R (in Ref. 7; AAC50069).
CONFLICT 1286 1286 S -> P (in Ref. 4; BAD92165).
CONFLICT 1627 1627 P -> L (in Ref. 7; AAC50069).
CONFLICT 1632 1632 L -> F (in Ref. 7; AAC50069).
CONFLICT 2280 2280 A -> G (in Ref. 7; AAC50069).
CONFLICT 2283 2284 KG -> RV (in Ref. 7; AAC50069).
CONFLICT 2436 2436 L -> H (in Ref. 7; AAC50069).
CONFLICT 2442 2442 P -> R (in Ref. 7; AAC50069).
TURN 172 174
STRAND 176 178
TURN 179 181
TURN 183 185
STRAND 186 188
TURN 190 192
STRAND 195 197
HELIX 198 206
STRAND 210 212
TURN 213 215
STRAND 217 219
TURN 221 223
STRAND 227 231
STRAND 233 236
STRAND 238 240
HELIX 241 247
HELIX 250 256
STRAND 258 261
TURN 266 268
HELIX 271 273
HELIX 274 284
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