(used for mutation description)
(last modified November 3, 2012)
This file was created to facilitate the description of sequence variants in the CCT5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012160.1, covering CCT5 transcript NM_012073.3.
(upstream sequence)
. . . . . g.5051
gattccagaagatactgtctggcgtgaaattagtctcagtagaaacataag c.-121
. . . . . . g.5111
tcccgcgcgtcttgtgctgcgcgtgcgcaagcttttgggccctcccgagaaagggaagtg c.-61
. . . . . . g.5171
cattctcgcttccgtagcggtctccgccggttggggggaagtaattccggttgttgcacc c.-1
. . . . . . g.5231
ATGGCGTCCATGGGGACCCTCGCCTTCGATGAATATGGGCGCCCTTTCCTCATCATCAAG c.60
M A S M G T L A F D E Y G R P F L I I K p.20
. . . . | 02 . . g.8990
GATCAGGACCGCAAGTCCCGTCTTATGGGACTTGAGGCCCTCAAG | TCTCATATAATGGCA c.120
D Q D R K S R L M G L E A L K | S H I M A p.40
. . . . | 03 . . g.9518
GCAAAGGCTGTAGCAAATACAATGAGAACATCACTTGGACCAAATG | GGCTTGATAAGATG c.180
A K A V A N T M R T S L G P N G | L D K M p.60
. . . . . . g.9578
ATGGTGGATAAGGATGGAGATGTGACTGTAACTAATGATGGGGCCACCATCTTAAGCATG c.240
M V D K D G D V T V T N D G A T I L S M p.80
. . . . . . g.9638
ATGGATGTTGATCATCAGATTGCCAAGCTGATGGTGGAACTGTCCAAGTCTCAGGATGAT c.300
M D V D H Q I A K L M V E L S K S Q D D p.100
. . . | 04 . . . g.10814
GAAATTGGAGATGGAACCACAGGAGTGGTTG | TCCTGGCTGGTGCCTTGTTAGAAGAAGCG c.360
E I G D G T T G V V V | L A G A L L E E A p.120
. . . . . . g.10874
GAGCAATTGCTAGACCGAGGCATTCACCCAATCAGAATAGCCGATGGCTATGAGCAGGCT c.420
E Q L L D R G I H P I R I A D G Y E Q A p.140
. . . . . . g.10934
GCTCGTGTTGCTATTGAACACCTGGACAAGATCAGCGATAGCGTCCTTGTTGACATAAAG c.480
A R V A I E H L D K I S D S V L V D I K p.160
. . . . . | 05 . g.12951
GACACCGAACCCCTGATTCAGACAGCAAAAACCACGCTGGGCTCCAAAGT | GGTCAACAGT c.540
D T E P L I Q T A K T T L G S K V | V N S p.180
. . . . . . g.13011
TGTCACCGACAGATGGCTGAGATTGCTGTGAATGCCGTCCTCACTGTAGCAGATATGGAG c.600
C H R Q M A E I A V N A V L T V A D M E p.200
. . . . . . g.13071
CGGAGAGACGTTGACTTTGAGCTTATCAAAGTAGAAGGCAAAGTGGGCGGCAGGCTGGAG c.660
R R D V D F E L I K V E G K V G G R L E p.220
. . . . . . g.13131
GACACTAAACTGATTAAGGGCGTGATTGTGGACAAGGATTTCAGTCACCCACAGATGCCA c.720
D T K L I K G V I V D K D F S H P Q M P p.240
| 06 . . . . . . g.13273
AAA | AAAGTGGAAGATGCGAAGATTGCAATTCTCACATGTCCATTTGAACCACCCAAACCA c.780
K | K V E D A K I A I L T C P F E P P K P p.260
. . . . . . g.13333
AAAACAAAGCATAAGCTGGATGTGACCTCTGTCGAAGATTATAAAGCCCTTCAGAAATAC c.840
K T K H K L D V T S V E D Y K A L Q K Y p.280
. . . | 07 . . . g.15649
GAAAAGGAGAAATTTGAAGAGATGATTCAACAA | ATTAAAGAGACTGGTGCTAACCTAGCA c.900
E K E K F E E M I Q Q | I K E T G A N L A p.300
. . . . . . g.15709
ATTTGTCAGTGGGGCTTTGATGATGAAGCAAATCACTTACTTCTTCAGAACAACTTGCCT c.960
I C Q W G F D D E A N H L L L Q N N L P p.320
. . . | 08 . . . g.16417
GCGGTTCGCTGGGTAGGAGGACCTGAAATTGAG | CTGATTGCCATCGCAACAGGAGGGCGG c.1020
A V R W V G G P E I E | L I A I A T G G R p.340
. . . . . . g.16477
ATCGTCCCCAGGTTCTCAGAGCTCACAGCCGAGAAGCTGGGCTTTGCTGGTCTTGTACAG c.1080
I V P R F S E L T A E K L G F A G L V Q p.360
. . . . . . g.16537
GAGATCTCATTTGGGACAACTAAGGATAAAATGCTGGTCATCGAGCAGTGTAAGAACTCC c.1140
E I S F G T T K D K M L V I E Q C K N S p.380
. . . | 09 . . g.17332
AGAGCTGTAACCATTTTTATTAGAGGAGGAAATAAGATG | ATCATTGAGGAGGCGAAACGA c.1200
R A V T I F I R G G N K M | I I E E A K R p.400
. . . . . . g.17392
TCCCTTCACGATGCTTTGTGTGTCATCCGGAACCTCATCCGCGATAATCGTGTGGTGTAT c.1260
S L H D A L C V I R N L I R D N R V V Y p.420
. . . . . | 10. g.17967
GGAGGAGGGGCTGCTGAGATATCCTGTGCCCTGGCAGTTAGCCAAGAGGCGGATAAG | TGC c.1320
G G G A A E I S C A L A V S Q E A D K | C p.440
. . . . . . g.18027
CCCACCTTAGAACAGTATGCCATGAGAGCGTTTGCCGACGCACTGGAGGTCATCCCCATG c.1380
P T L E Q Y A M R A F A D A L E V I P M p.460
. . . . . . g.18087
GCCCTCTCTGAAAACAGTGGCATGAATCCCATCCAGACTATGACCGAAGTCCGAGCCAGA c.1440
A L S E N S G M N P I Q T M T E V R A R p.480
. . . . . | 11 g.19488
CAGGTGAAGGAGATGAACCCTGCTCTTGGCATCGACTGTTTGCACAAGGGGACAAATG | AT c.1500
Q V K E M N P A L G I D C L H K G T N D | p.500
. . . . . . g.19548
ATGAAGCAACAGCATGTCATAGAAACCTTGATTGGCAAAAAGCAACAGATATCTCTTGCA c.1560
M K Q Q H V I E T L I G K K Q Q I S L A p.520
. . . . . . g.19608
ACACAAATGGTTAGAATGATTTTGAAGATTGATGACATTCGTAAGCCTGGAGAATCTGAA c.1620
T Q M V R M I L K I D D I R K P G E S E p.540
g.19614
GAATGA c.1626
E X p.541
. . . . . . g.19674
agacattgagaaaactatgtagcaagatccacttctgtgattaagtaaatggatgtctcg c.*60
. . . . . . g.19734
tgatgcatctacagttatttattgttacatccttttccagacactgtagatgctataata c.*120
. . . . . . g.19794
aaaatagctgtttggtaaccatagtttcacttgttcaaagctgtgtaatcgtgggggtac c.*180
. . . . . . g.19854
catctcaactgcttttgtattcattgtattaaaagaatctgtttaaacaacctttatctt c.*240
. . . . . . g.19914
ctcttcgggtttaagaaacgtttattgtaacagtaattaaatgctgccttaattgaaggg c.*300
. . . . . . g.19974
gtttgggtggatttttttttctcaaaataagctgtagggactattttaacagcttaaaca c.*360
. . . . . . g.20034
ggagctctcaagatgcactttcatattgagaggaatatgggcttgatcctcttcctatct c.*420
. . . . . . g.20094
aaatgggtgggccatttgattgtagagggtccaccacagaattatgggatgccttaagtg c.*480
. . . . . . g.20154
ctgttactaggttgctcacagcctaacctggcgtgttgtttagggctgatggagacccat c.*540
. . . . . . g.20214
gtgagcctttgctttcctctggccccggccccaccctgaacacagctcatacacagaatc c.*600
. . . . . . g.20274
aggaccagcatgtgcagagctggccaccagcacaggcttagggcagttcagaacccactt c.*660
. . . . . . g.20334
gtttccctatcagagggacacagtgaagtggaggttaaagtaaattacaggaaataaggg c.*720
. . . . . . g.20394
agaaatcttgcagttaccatgttcagatagagtgactgaaattaattgtacttactaaag c.*780
. . . . . . g.20454
tattaactagctaacagtgatgggccaagacgctccgagaactctaccgggattgtctgt c.*840
. . . . . . g.20514
tctgacaacccagtgaggcagatacactttcttactgctcacatcttacaggtgagtact c.*900
. . . . . . g.20574
cataattggccagcatctcaccaccagcaagtagtagggccaggtcaatcccaggcagtc c.*960
. . . . . . g.20634
tgaccccagagtggcccagctcatcccctactctgttatttgcttgttaatgattctcta c.*1020
. . . . . . g.20694
gattttctaaaataatgtttcttagcattgtgatgataaagctcatgatgaactttatca c.*1080
. . . . . . g.20754
ctagttatgccaccttaactagtcagatttcctagaattaggaaatggtgactcttgtct c.*1140
. . . . . . g.20814
aaatttggttaagtgatgaatttgggttaccgtctcatgtgaacctggagattcaccagt c.*1200
. . . . . . g.20874
cttaacttttgggtcattgtgttttctctacattcatgcattggatgttttgctaaataa c.*1260
. . . . . . g.20934
ctcctgtggatttaggaatgtgtgctaatagcaatcttcctaattttcatgtttatatgg c.*1320
. . . . . . g.20994
aactatgcagttgagtattgaaagctttaaactgagtttatttacaaggactgagtctag c.*1380
. . . . . . g.21054
cctacagagaacatacagcagccttctttggaccacagtcttatccgaggggtctgtggt c.*1440
. . . . . . g.21114
tgtatcagaagagccactaaaccaatccccctttccaaaattgaacctcacagacgttcc c.*1500
. . . . . . g.21174
tgttttttgtgattgagaaactggtcaatgaacaggaagacttagagatgtttcacaagc c.*1560
. . . . g.21220
ctttgatttttgtttcatttatttgtaataaacctcttccacgtga c.*1606
(downstream sequence)
Legend:
Powered by LOVD v.2.0 Build 34
©2004-2012 Leiden University Medical Center