|
Feature key |
Position
|
Length
|
Description
|
Feature identifier
|
Region
|
|
|
|
|
|
Domain
|
156 - 511
|
356
|
Protein kinase
|
Q9BXM7-DOMAIN-156
|
|
Nucleotide binding
|
162 - 170
|
9
|
ATP (By similarity)
|
Q9BXM7-NP_BIND-162
|
|
Topological domain
|
78 - 93
|
16
|
Mitochondrial intermembrane (Potential)
|
Q9BXM7-TOPO_DOM-78
|
|
Topological domain
|
111 - 581
|
471
|
Cytoplasmic (Potential)
|
Q9BXM7-TOPO_DOM-111
|
|
Transmembrane
|
94 - 110
|
17
|
Helical; (Potential)
|
Q9BXM7-TRANSMEM-94
|
Sites
|
|
|
|
|
|
Active site
|
362 - 362
|
1
|
Proton acceptor (By similarity)
|
Q9BXM7-ACT_SITE-362
|
|
Binding site
|
186 - 186
|
1
|
ATP (By similarity)
|
Q9BXM7-BINDING-186
|
Natural variations
|
|
|
|
|
|
Natural variant site
|
67 - 67
|
1
|
L -> F
|
VAR_046566
|
|
Natural variant site
|
68 - 68
|
1
|
R -> P
|
VAR_046567
|
|
Natural variant site
|
92 - 92
|
1
|
C -> F (in PARK6)
|
VAR_046568
|
|
Natural variant site
|
98 - 98
|
1
|
R -> W
|
VAR_046569
|
|
Natural variant site
|
111 - 111
|
1
|
I -> S
|
VAR_046570
|
|
Natural variant site
|
115 - 115
|
1
|
Q -> L
|
VAR_046571
|
|
Natural variant site
|
124 - 124
|
1
|
A -> V
|
VAR_046572
|
|
Natural variant site
|
125 - 125
|
1
|
C -> G (in PARK6)
|
VAR_062773
|
|
Natural variant site
|
145 - 145
|
1
|
T -> M (in dbSNP:rs45604240)
|
VAR_046573
|
|
Natural variant site
|
147 - 147
|
1
|
R -> H (in PARK6; uncertain pathogenicity)
|
VAR_046574
|
|
Natural variant site
|
148 - 148
|
1
|
L -> W (in dbSNP:rs56297806)
|
VAR_041010
|
|
Natural variant site
|
168 - 168
|
1
|
A -> P (in PARK6; has reduced autophosphorylation activity compared to wild-type; localizes to the mitochondria and immunogold experiments reveal that both wild-type and mutant proteins face the mitochondrial intermembrane space)
|
VAR_046575
|
|
Natural variant site
|
186 - 186
|
1
|
K -> N
|
VAR_046576
|
|
Natural variant site
|
196 - 196
|
1
|
P -> S (in dbSNP:rs35802484)
|
VAR_041011
|
|
Natural variant site
|
196 - 196
|
1
|
P -> L (in PARK6)
|
VAR_046577
|
|
Natural variant site
|
209 - 209
|
1
|
P -> L (in dbSNP:rs34677717)
|
VAR_041012
|
|
Natural variant site
|
215 - 215
|
1
|
P -> L (in a glioblastoma multiforme sample; somatic mutation)
|
VAR_041013
|
|
Natural variant site
|
217 - 217
|
1
|
A -> D (in PARK6)
|
VAR_046578
|
|
Natural variant site
|
231 - 231
|
1
|
E -> G
|
VAR_046579
|
|
Natural variant site
|
235 - 235
|
1
|
N -> I
|
VAR_046580
|
|
Natural variant site
|
240 - 240
|
1
|
E -> K (in PARK6)
|
VAR_046581
|
|
Natural variant site
|
257 - 257
|
1
|
T -> I
|
VAR_046582
|
|
Natural variant site
|
263 - 263
|
1
|
R -> G
|
VAR_046583
|
|
Natural variant site
|
268 - 268
|
1
|
L -> V (in PARK6)
|
VAR_046584
|
|
Natural variant site
|
271 - 271
|
1
|
H -> Q (in PARK6)
|
VAR_046585
|
|
Natural variant site
|
276 - 276
|
1
|
R -> Q
|
VAR_046586
|
|
Natural variant site
|
279 - 279
|
1
|
R -> H (in PARK6)
|
VAR_046587
|
|
Natural variant site
|
280 - 280
|
1
|
A -> T (in PARK6; early-onset)
|
VAR_062774
|
|
Natural variant site
|
296 - 296
|
1
|
P -> L
|
VAR_046588
|
|
Natural variant site
|
305 - 305
|
1
|
P -> L (in dbSNP:rs7349186)
|
VAR_018993
|
|
Natural variant site
|
309 - 309
|
1
|
G -> D (in PARK6; fails to maintain mitochondrial membrane potential and protect against apoptosis following induction of stress; has reduced autophosphorylation activity compared to wild-type; localizes to the mitochondria and immunogold experiments reveal that both wild-type and mutant proteins face the mitochondrial intermembrane space)
|
VAR_018994
|
|
Natural variant site
|
313 - 313
|
1
|
T -> M (in PARK6)
|
VAR_046589
|
|
Natural variant site
|
317 - 317
|
1
|
V -> I
|
VAR_046590
|
|
Natural variant site
|
318 - 318
|
1
|
M -> L
|
VAR_046591
|
|
Natural variant site
|
322 - 322
|
1
|
P -> L
|
VAR_046592
|
|
Natural variant site
|
339 - 339
|
1
|
A -> T (in dbSNP:rs55831733)
|
VAR_041014
|
|
Natural variant site
|
340 - 340
|
1
|
A -> T (in dbSNP:rs3738136)
|
VAR_018995
|
|
Natural variant site
|
341 - 341
|
1
|
M -> I (in dbSNP:rs35813094)
|
VAR_041015
|
|
Natural variant site
|
347 - 347
|
1
|
L -> P (in PARK6)
|
VAR_046593
|
|
Natural variant site
|
362 - 362
|
1
|
D -> H
|
VAR_046594
|
|
Natural variant site
|
369 - 369
|
1
|
L -> P (in PARK6)
|
VAR_062775
|
|
Natural variant site
|
377 - 377
|
1
|
C -> F (in dbSNP:rs34203620)
|
VAR_041016
|
|
Natural variant site
|
383 - 383
|
1
|
A -> T (in dbSNP:rs45515602)
|
VAR_046595
|
|
Natural variant site
|
386 - 386
|
1
|
G -> A (in PARK6)
|
VAR_062776
|
|
Natural variant site
|
388 - 388
|
1
|
C -> R (in PARK6)
|
VAR_046596
|
|
Natural variant site
|
395 - 395
|
1
|
G -> V
|
VAR_046597
|
|
Natural variant site
|
399 - 399
|
1
|
P -> L (in PARK6; digenic inheritance; associated with Ser-39 mutation in PARK7 gene)
|
VAR_062777
|
|
Natural variant site
|
407 - 407
|
1
|
R -> Q (in PARK6; early-onset)
|
VAR_062778
|
|
Natural variant site
|
409 - 409
|
1
|
G -> V (in PARK6)
|
VAR_062779
|
|
Natural variant site
|
411 - 411
|
1
|
G -> S (in dbSNP:rs45478900)
|
VAR_046598
|
|
Natural variant site
|
417 - 417
|
1
|
E -> G (in PARK6)
|
VAR_046599
|
|
Natural variant site
|
425 - 425
|
1
|
P -> S
|
VAR_046600
|
|
Natural variant site
|
431 - 431
|
1
|
Y -> H (may predispose to Parkinson disease development; shows decreased mitochondrial membrane potential under stress conditions)
|
VAR_046601
|
|
Natural variant site
|
442 - 442
|
1
|
I -> T
|
VAR_046602
|
|
Natural variant site
|
451 - 451
|
1
|
N -> S (may predispose to Parkinson disease development; shows decreased mitochondrial membrane potential under stress conditions)
|
VAR_046603
|
|
Natural variant site
|
461 - 461
|
1
|
L -> S
|
VAR_046604
|
|
Natural variant site
|
464 - 464
|
1
|
R -> H (in PARK6)
|
VAR_046605
|
|
Natural variant site
|
476 - 476
|
1
|
E -> K (may predispose to Parkinson disease development; shows decreased mitochondrial membrane potential under stress conditions)
|
VAR_046606
|
|
Natural variant site
|
477 - 477
|
1
|
S -> T (in dbSNP:rs34416410)
|
VAR_041017
|
|
Natural variant site
|
489 - 489
|
1
|
L -> P (in PARK6)
|
VAR_046607
|
|
Natural variant site
|
501 - 501
|
1
|
R -> P (may predispose to Parkinson disease development; shows decreased mitochondrial membrane potential under stress conditions)
|
VAR_046608
|
|
Natural variant site
|
521 - 521
|
1
|
N -> T (in dbSNP:rs1043424)
|
VAR_018996
|
|
Natural variant site
|
525 - 525
|
1
|
D -> N
|
VAR_046609
|
|
Natural variant site
|
534 - 534
|
1
|
Q -> QQ (in PARK6)
|
VAR_046610
|
|
Natural variant site
|
537 - 537
|
1
|
A -> T
|
VAR_046611
|
|
Natural variant site
|
575 - 575
|
1
|
C -> R (may predispose to Parkinson disease development; shows decreased mitochondrial membrane potential under stress conditions)
|
VAR_046612
|
|
Alternative sequence
|
1 - 307
|
307
|
Missing
|
VSP_050754
|
|
Alternative sequence
|
308 - 320
|
13
|
LGHGRTLFLVMKN -> MCGSQRPSPLSTS
|
VSP_050755
|
