(used for mutation description)
(last modified July 20, 2012)
This file was created to facilitate the description of sequence variants on transcript NM_032649.5 in the CNDP1 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000018.9, covering CNDP1 transcript NM_032649.5.
(upstream sequence)
. . . g.5031
gcagttgagctgaatgaatacctccgaagcc c.-181
. . . . . . g.5091
gctttgttctccagatgtgaatagctccactataccagcctcgtcttccttccgggggac c.-121
. . . . . . g.5151
aacgtgggtcagggcacagagagatatttaatgtcaccctcttggggctttcatgggact c.-61
. . . . . . g.5211
ccctctgccacattttttggaggttgggaaagttgctagaggcttcagaactccagccta c.-1
. . | 02 . . . . g.26917
ATGGATCCCAAACTCGGGAGAATG | GCTGCGTCCCTGCTGGCTGTGCTGCTGCTGCTGCTG c.60
M D P K L G R M | A A S L L A V L L L L L p.20
. . . . . . g.26977
GAGCGCGGCATGTTCTCCTCACCCTCCCCGCCCCCGGCGCTGTTAGAGAAAGTCTTCCAG c.120
E R G M F S S P S P P P A L L E K V F Q p.40
. . . | 03 . . . g.29893
TACATTGACCTCCATCAGGATGAATTTGTGCAG | ACGCTGAAGGAGTGGGTGGCCATCGAG c.180
Y I D L H Q D E F V Q | T L K E W V A I E p.60
. . . . . . g.29953
AGCGACTCTGTCCAGCCTGTGCCTCGCTTCAGACAAGAGCTCTTCAGAATGATGGCCGTG c.240
S D S V Q P V P R F R Q E L F R M M A V p.80
. . . . . . g.30013
GCTGCGGACACGCTGCAGCGCCTGGGGGCCCGTGTGGCCTCGGTGGACATGGGTCCTCAG c.300
A A D T L Q R L G A R V A S V D M G P Q p.100
| 04 . . . . . . g.31456
CAG | CTGCCCGATGGTCAGAGTCTTCCAATACCTCCCATCATCCTGGCCGAACTGGGGAGC c.360
Q | L P D G Q S L P I P P I I L A E L G S p.120
. . . . . . g.31516
GATCCCACGAAAGGCACCGTGTGCTTCTACGGCCACTTGGACGTGCAGCCTGCTGACCGG c.420
D P T K G T V C F Y G H L D V Q P A D R p.140
. . . . | 05 . . g.32604
GGCGATGGGTGGCTCACGGACCCCTATGTGCTGACGGAGGTAGACG | GGAAACTTTATGGA c.480
G D G W L T D P Y V L T E V D G | K L Y G p.160
. . . . . . g.32664
CGAGGAGCGACCGACAACAAAGGCCCTGTCTTGGCTTGGATCAATGCTGTGAGCGCCTTC c.540
R G A T D N K G P V L A W I N A V S A F p.180
. | 06 . . . . . g.37821
AGAGCCCTGGAGCAA | GATCTTCCTGTGAATATCAAATTCATCATTGAGGGGATGGAAGAG c.600
R A L E Q | D L P V N I K F I I E G M E E p.200
. . . . . . g.37881
GCTGGCTCTGTTGCCCTGGAGGAACTTGTGGAAAAAGAAAAGGACCGATTCTTCTCTGGT c.660
A G S V A L E E L V E K E K D R F F S G p.220
. . . . . . g.37941
GTGGACTACATTGTAATTTCAGATAACCTGTGGATCAGCCAAAGGAAGCCAGCAATCACT c.720
V D Y I V I S D N L W I S Q R K P A I T p.240
. . . | 07 . . . g.41753
TACGGAACCCGGGGGAACAGCTACTTCATGGTGGAG | GTGAAATGCAGAGACCAGGATTTT c.780
Y G T R G N S Y F M V E | V K C R D Q D F p.260
. . . . . . g.41813
CACTCAGGAACCTTTGGTGGCATCCTTCATGAACCAATGGCTGATCTGGTTGCTCTTCTC c.840
H S G T F G G I L H E P M A D L V A L L p.280
| 08 . . . . . . g.47471
G | GTAGCCTGGTAGACTCGTCTGGTCATATCCTGGTCCCTGGAATCTATGATGAAGTGGTT c.900
G | S L V D S S G H I L V P G I Y D E V V p.300
. . . . . . g.47531
CCTCTTACAGAAGAGGAAATAAATACATACAAAGCCATCCATCTAGACCTAGAAGAATAC c.960
P L T E E E I N T Y K A I H L D L E E Y p.320
. . . . | 09 . . g.48724
CGGAATAGCAGCCGGGTTGAGAAATTTCTGTTCGATACTAAG | GAGGAGATTCTAATGCAC c.1020
R N S S R V E K F L F D T K | E E I L M H p.340
. . . . . . g.48784
CTCTGGAGGTACCCATCTCTTTCTATTCATGGGATCGAGGGCGCGTTTGATGAGCCTGGA c.1080
L W R Y P S L S I H G I E G A F D E P G p.360
. . . . . . g.48844
ACTAAAACAGTCATACCTGGCCGAGTTATAGGAAAATTTTCAATCCGTCTAGTCCCTCAC c.1140
T K T V I P G R V I G K F S I R L V P H p.380
. . | 10. . . . g.50707
ATGAATGTGTCTGCGGTGGAAAAACAG | GTGACACGACATCTTGAAGATGTGTTCTCCAAA c.1200
M N V S A V E K Q | V T R H L E D V F S K p.400
. . . . . . g.50767
AGAAATAGTTCCAACAAGATGGTTGTTTCCATGACTCTAGGACTACACCCGTGGATTGCA c.1260
R N S S N K M V V S M T L G L H P W I A p.420
. . . . | 11 . g.54116
AATATTGATGACACCCAGTATCTCGCAGCAAAAAGAGCGATCAGAACAG | TGTTTGGAACA c.1320
N I D D T Q Y L A A K R A I R T V | F G T p.440
. . . . . . g.54176
GAACCAGATATGATCCGGGATGGATCCACCATTCCAATTGCCAAAATGTTCCAGGAGATC c.1380
E P D M I R D G S T I P I A K M F Q E I p.460
. . . . . . g.54236
GTCCACAAGAGCGTGGTGCTAATTCCGCTGGGAGCTGTTGATGATGGAGAACATTCGCAG c.1440
V H K S V V L I P L G A V D D G E H S Q p.480
. | 12. . . . . g.55083
AATGAGAAAATCAACAG | GTGGAACTACATAGAGGGAACCAAATTATTTGCTGCCTTTTTC c.1500
N E K I N R | W N Y I E G T K L F A A F F p.500
. . g.55107
TTAGAGATGGCCCAGCTCCATTAA c.1524
L E M A Q L H X p.507
. . . . . . g.55167
tcacaagaaccttctagtctgatctgatccactgacagattcacctcccccacatcccta c.*60
. . . . . . g.55227
gacagggatggaatgtaaatatccagagaatttgggtctagtatagtacattttcccttc c.*120
. . . . . . g.55287
catttaaaatgtcttgggatatctggatcagtaataaaatatttcaaaggcacagatgtt c.*180
. . . . . . g.55347
ggaaatggtttaaggtcccccactgcacaccttcctcaagtcatagctgcttgcagcaac c.*240
. . . . . . g.55407
ttgatttccccaagtcctgtgcaatagccccaggattggattccttcaaaccttttagca c.*300
. . . . . . g.55467
tatctccaaccttgcaatttgattggcataatcactccagtttgctttctaggtcctcaa c.*360
. . . . . . g.55527
gtgctcgtgacacataatcattccatccaatgatcgcctttgctttaccactctttcctt c.*420
. . . . g.55570
ttatcttattaataaaaatgttggtctccaccactgactacaa c.*463
(downstream sequence)
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