(used for variant description)
(last modified November 22, 2013)
This file was created to facilitate the description of sequence variants on transcript NM_002894.2 in the RBBP8 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NG_012121.1, covering RBBP8 transcript NM_002894.2.
(upstream sequence)
. . . g.5031
gacgtcgcgcgggctcccgggcggggcgggt c.-301
. . . . . . g.5091
ccggccgcctccgagcccggccggcagcccccggccttaaagcgcgggctgtccggaggg c.-241
. . . . . . g.5151
gtcggctttcccaccgaggatttggcactctggtgagggaaaagggcgaaagagaaaagc c.-181
. . . . . . g.5211
gagcagccgtcctttcacagcctcagaaagtgctcgcttcccttcgggggctttcgcgaa c.-121
. . . | 02 . . . g.8460
tcccgaggcaatctcggaggcg | gtatttgacctgtccaaagacgacttgatacctctata c.-61
. . . . . . g.8520
atgtaacagaaaaggtcagaaaatattaagcaagtagaagtgtggagcatattaagcaag c.-1
. . . . . . g.8580
ATGAACATCTCGGGAAGCAGCTGTGGAAGCCCTAACTCTGCAGATACATCTAGTGACTTT c.60
M N I S G S S C G S P N S A D T S S D F p.20
. . . . | 03 . g.18123
AAGGACCTTTGGACAAAACTAAAAGAATGTCATGATAGAGAAGTACAAG | GTTTACAAGTA c.120
K D L W T K L K E C H D R E V Q G | L Q V p.40
. . . | 04 . . . g.21314
AAAGTAACCAAGCTAAAACAGGAACGAATCTT | AGATGCACAAAGACTAGAAGAATTCTTC c.180
K V T K L K Q E R I L | D A Q R L E E F F p.60
. . . . . . g.21374
ACCAAAAATCAACAGCTGAGGGAACAGCAGAAAGTCCTTCATGAAACCATTAAAGTTTTA c.240
T K N Q Q L R E Q Q K V L H E T I K V L p.80
| 05 . . . . . g.40526
GAAGATCG | GTTAAGAGCAGGCTTATGTGATCGCTGTGCAGTAACTGAAGAACATATGCGG c.300
E D R | L R A G L C D R C A V T E E H M R p.100
. . . . . . g.40586
AAAAAACAGCAAGAGTTTGAAAATATCCGGCAGCAGAATCTTAAACTTATTACAGAACTT c.360
K K Q Q E F E N I R Q Q N L K L I T E L p.120
| 06 . . . . . . g.46880
A | TGAATGAAAGGAATACTCTACAGGAAGAAAATAAAAAGCTTTCTGAACAACTCCAGCAG c.420
M | N E R N T L Q E E N K K L S E Q L Q Q p.140
| 07 . . . . . g.53938
AAAATTGA | GAATGATCAACAGCATCAAGCAGCTGAGCTTGAATGTGAGGAAGACGTTATT c.480
K I E | N D Q Q H Q A A E L E C E E D V I p.160
. . . . . . g.53998
CCAGATTCACCGATAACAGCCTTCTCATTTTCTGGCGTTAACCGGCTACGAAGAAAGGAG c.540
P D S P I T A F S F S G V N R L R R K E p.180
. . . . . . g.54058
AACCCCCATGTCCGATACATAGAACAAACACATACTAAATTGGAGCACTCTGTGTGTGCA c.600
N P H V R Y I E Q T H T K L E H S V C A p.200
| 08 . . . . . . g.56610
AATG | AAATGAGAAAAGTTTCCAAGTCTTCAACTCATCCACAACATAATCCTAATGAAAAT c.660
N E | M R K V S K S S T H P Q H N P N E N p.220
. . . . | 09 . g.60900
GAAATTCTAGTAGCTGACACTTATGACCAAAGTCAATCTCCAATGGCCA | AAGCACATGGA c.720
E I L V A D T Y D Q S Q S P M A K | A H G p.240
. . . . . . g.60960
ACAAGCAGCTATACCCCTGATAAGTCATCTTTTAATTTAGCTACAGTTGTTGCTGAAACA c.780
T S S Y T P D K S S F N L A T V V A E T p.260
. . | 10. . . . g.62638
CTTGGACTTGGTGTTCAAGAAGAATCT | GAAACTCAAGGTCCCATGAGCCCCCTTGGTGAT c.840
L G L G V Q E E S | E T Q G P M S P L G D p.280
. . . . . . g.62698
GAGCTCTACCACTGTCTGGAAGGAAATCACAAGAAACAGCCTTTTGAGGAATCTACAAGA c.900
E L Y H C L E G N H K K Q P F E E S T R p.300
. . | 11 . . . . g.64456
AATACTGAAGATAGTTTAAG | ATTTTCAGATTCTACTTCAAAGACTCCTCCTCAAGAAGAA c.960
N T E D S L R | F S D S T S K T P P Q E E p.320
. . . . . . g.64516
TTACCTACTCGAGTGTCATCTCCTGTATTTGGAGCTACCTCTAGTATCAAAAGTGGTTTA c.1020
L P T R V S S P V F G A T S S I K S G L p.340
. . . . . . g.64576
GATTTGAATACAAGTTTGTCCCCTTCTCTTTTACAGCCTGGGAAAAAAAAACATCTGAAA c.1080
D L N T S L S P S L L Q P G K K K H L K p.360
. . . . . . g.64636
ACACTCCCTTTTAGCAACACTTGTATATCTAGATTAGAAAAAACTAGATCAAAATCTGAA c.1140
T L P F S N T C I S R L E K T R S K S E p.380
. . . . . . g.64696
GATAGTGCCCTTTTCACACATCACAGTCTTGGGTCTGAAGTGAACAAGATCATTATCCAG c.1200
D S A L F T H H S L G S E V N K I I I Q p.400
. . . . . . g.64756
TCATCTAATAAACAGATACTTATAAATAAAAATATAAGTGAATCCCTAGGTGAACAGAAT c.1260
S S N K Q I L I N K N I S E S L G E Q N p.420
. . . . . . g.64816
AGGACTGAGTACGGTAAAGATTCTAACACTGATAAACATTTGGAGCCCCTGAAATCATTG c.1320
R T E Y G K D S N T D K H L E P L K S L p.440
. . . . . . g.64876
GGAGGCCGAACATCCAAAAGGAAGAAAACTGAGGAAGAAAGTGAACATGAAGTAAGCTGC c.1380
G G R T S K R K K T E E E S E H E V S C p.460
. . . . . . g.64936
CCCCAAGCTTCTTTTGATAAAGAAAATGCTTTCCCTTTTCCAATGGATAATCAGTTTTCC c.1440
P Q A S F D K E N A F P F P M D N Q F S p.480
. . . . . . g.64996
ATGAATGGAGACTGTGTGATGGATAAACCTCTGGATCTGTCTGATCGATTTTCAGCTATT c.1500
M N G D C V M D K P L D L S D R F S A I p.500
. . . . . . g.65056
CAGCGTCAAGAGAAAAGCCAAGGAAGTGAGACTTCTAAAAACAAATTTAGGCAAGTGACT c.1560
Q R Q E K S Q G S E T S K N K F R Q V T p.520
. . . . . . g.65116
CTTTATGAGGCTTTGAAGACCATTCCAAAGGGCTTTTCCTCAAGCCGTAAGGCCTCAGAT c.1620
L Y E A L K T I P K G F S S S R K A S D p.540
. . . . . . g.65176
GGCAACTGCACGTTGCCCAAAGATTCCCCAGGGGAGCCCTGTTCACAGGAATGCATCATC c.1680
G N C T L P K D S P G E P C S Q E C I I p.560
. . . . . . g.65236
CTTCAGCCCTTGAATAAATGCTCTCCAGACAATAAACCATCATTACAAATAAAAGAAGAA c.1740
L Q P L N K C S P D N K P S L Q I K E E p.580
. . . . . . g.65296
AATGCTGTCTTTAAAATTCCTCTACGTCCACGTGAAAGTTTGGAGACTGAGAATGTTTTA c.1800
N A V F K I P L R P R E S L E T E N V L p.600
. | 12 . . . . . g.65437
GATGACATAAAG | AGTGCTGGTTCTCATGAGCCAATAAAAATACAAACCAGGTCAGACCAT c.1860
D D I K | S A G S H E P I K I Q T R S D H p.620
. . . . . . g.65497
GGAGGATGTGAACTTGCATCAGTTCTTCAGTTAAATCCATGTAGAACTGGTAAAATAAAG c.1920
G G C E L A S V L Q L N P C R T G K I K p.640
. | 13 . . . . g.68083
TCTCTACAAAACAACCAAG | ATGTATCCTTTGAAAATATCCAGTGGAGTATAGATCCGGGA c.1980
S L Q N N Q D | V S F E N I Q W S I D P G p.660
. . . . | 14 . g.69300
GCAGACCTTTCTCAGTATAAAATGGATGTTACTGTAATAGATACAAAG | GATGGCAGTCAG c.2040
A D L S Q Y K M D V T V I D T K | D G S Q p.680
. . . . . . g.69360
TCAAAATTAGGAGGAGAGACAGTGGACATGGACTGTACATTGGTTAGTGAAACCGTTCTC c.2100
S K L G G E T V D M D C T L V S E T V L p.700
. . . . | 15 . . g.73271
TTAAAAATGAAGAAGCAAGAGCAGAAGGGAGAAAAAAGTTCAA | ATGAAGAAAGAAAAATG c.2160
L K M K K Q E Q K G E K S S N | E E R K M p.720
. . . . . . g.73331
AATGATAGCTTGGAAGATATGTTTGATCGGACAACACATGAAGAGTATGAATCCTGTTTG c.2220
N D S L E D M F D R T T H E E Y E S C L p.740
. . . . . . g.73391
GCAGACAGTTTCTCCCAAGCAGCAGATGAAGAGGAGGAATTGTCTACTGCCACAAAGAAA c.2280
A D S F S Q A A D E E E E L S T A T K K p.760
| 16. . . . . . g.78084
CTACACA | CTCATGGTGATAAACAAGACAAAGTCAAGCAGAAAGCGTTTGTGGAGCCGTAT c.2340
L H T | H G D K Q D K V K Q K A F V E P Y p.780
. | 17. . . . . g.88539
TTTAAAGGTGATGAAAG | AGAGACTAGCTTGCAAAATTTTCCTCATATTGAGGTGGTTCGG c.2400
F K G D E R | E T S L Q N F P H I E V V R p.800
. . . . . | 18 . g.93803
AAAAAAGAGGAGAGAAGAAAACTGCTTGGGCACACGTGTAAGGAATGTGAAATT | TATTAT c.2460
K K E E R R K L L G H T C K E C E I | Y Y p.820
. . . . . . g.93863
GCAGATATGCCAGCAGAAGAAAGAGAAAAGAAATTGGCTTCCTGCTCAAGACACCGATTC c.2520
A D M P A E E R E K K L A S C S R H R F p.840
. . . . . . g.93923
CGCTACATTCCACCCAACACACCAGAGAATTTTTGGGAAGTTGGTTTTCCTTCCACTCAG c.2580
R Y I P P N T P E N F W E V G F P S T Q p.860
. | 19 . . . . . g.97855
ACTTGTATGGAAAGAG | GTTATATTAAGGAAGATCTTGATCCTTGTCCTCGTCCAAAAAGA c.2640
T C M E R G | Y I K E D L D P C P R P K R p.880
. . . . . g.97909
CGTCAGCCTTACAACGCAATATTTTCTCCAAAAGGCAAGGAGCAGAAGACATAG c.2694
R Q P Y N A I F S P K G K E Q K T X p.897
. . . . . . g.97969
acgttgaaacagaaacagaaggatgaaggacagttttttccttcttagttatttatagtt c.*60
. . . . . . g.98029
aaagttggtactaaacattgatttttttgatcttctgtaaatggatttataaatcagttt c.*120
. . . . . . g.98089
tctattgaaaatgtttgtgatattttgcttttgcacctttaaaacaataaggcgctttca c.*180
. . . . . . g.98149
ttttgcactctaacttaagagtttttactttatgtagtgatacctaatacaattttgaaa c.*240
g.98155
atacaa c.*246
(downstream sequence)
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