(used for variant description)
(last modified September 23, 2024)
This file was created to facilitate the description of sequence variants on transcript NM_001099271.1 in the POC5 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000005.9, covering POC5 transcript NM_001099271.1.
(upstream sequence)
. g.5017
agattgctgaaacaaag c.-181
. . . . . . g.5077
gaccaatgcccagggcggtccttaattcctccctgcagtttgaaactgtcaggttgccgt c.-121
. . . . . . g.5137
ctaggtagcggttgtgcttgctgaggctgcacttgctgacactgcagctgcgacgcggct c.-61
. . . . . | 02 . g.9551
aagaggcgcagagcgaggagtcgggatttggtcgcgagcggcgacg | agcatttgtgcaga c.-1
. . . . . . g.9611
ATGTCATCAGATGAGGAGAAATACTCACTTCCAGTTGTGCAAAATGACTCCAGTCGAGGC c.60
M S S D E E K Y S L P V V Q N D S S R G p.20
. . | 03 . . . . g.14649
AGTTCTGTCTCTTCGAATCTTCAG | GAAGAATATGAAGAACTGCTTCATTATGCTATAGTG c.120
S S V S S N L Q | E E Y E E L L H Y A I V p.40
. . . . . . g.14709
ACTCCAAATATTGAACCCTGTGCTTCACAGTCATCTCATCCTAAGGGAGAATTGGTGCCA c.180
T P N I E P C A S Q S S H P K G E L V P p.60
. . . . | 04 . . g.16718
GATGTCAGAATTTCTACAATTCATGATATTCTTCATAGTCAAG | GAAATAACTCTGAAGTA c.240
D V R I S T I H D I L H S Q G | N N S E V p.80
. . . . . . g.16778
AGAGAAACTGCAATAGAAGTTGGAAAAGGATGTGATTTCCATATTTCAAGTCATTCAAAG c.300
R E T A I E V G K G C D F H I S S H S K p.100
| 05. . . . . . g.19731
ACAGATG | AGTCATCACCAGTGTTATCGCCAAGGAAGCCTTCTCACCCAGTCATGGATTTT c.360
T D E | S S P V L S P R K P S H P V M D F p.120
. . . . . . g.19791
TTCAGTTCACATCTTTTAGCTGACTCTTCCTCACCAGCAACAAATTCTAGTCATACAGAT c.420
F S S H L L A D S S S P A T N S S H T D p.140
. . . . . . g.19851
GCCCATGAAATACTTGTGAGCGATTTTCTTGTTTCTGATGAAAACCTTCAGAAGATGGAA c.480
A H E I L V S D F L V S D E N L Q K M E p.160
. . . | 06 . . . g.27684
AATGTGCTTGATCTTTGGAGTTCAGGTCTTAAG | ACAAACATCATATCTGAACTAAGTAAA c.540
N V L D L W S S G L K | T N I I S E L S K p.180
. . . . . . g.27744
TGGAGACTTAATTTTATTGACTGGCACCGAATGGAAATGAGAAAAGAGAAAGAAAAACAT c.600
W R L N F I D W H R M E M R K E K E K H p.200
. . . . . . g.27804
GCAGCACATTTAAAACAACTGTGTAATCAGATCAATGAATTGAAGGAGCTGCAAAAAACC c.660
A A H L K Q L C N Q I N E L K E L Q K T p.220
. . . | 07 . . . g.30018
TTTGAAATCTCCATTGGGAGAAAAGATGAG | GTGATTTCTAGCTTGTCTCATGCCATAGGC c.720
F E I S I G R K D E | V I S S L S H A I G p.240
. . . . . . g.30078
AAGCAAAAGGAAAAGATAGAGTTGATGAGAACATTCTTCCACTGGCGAATCGGCCATGTC c.780
K Q K E K I E L M R T F F H W R I G H V p.260
. | 08 . . . . . g.31971
AGAGCCAGACAGGAT | GTTTATGAAGGTAAACTAGCTGACCAGTACTACCAGAGAACTTTA c.840
R A R Q D | V Y E G K L A D Q Y Y Q R T L p.280
. . . . . . g.32031
CTGAAGAAAGTCTGGAAAGTCTGGCGTTCCGTAGTGCAAAAGCAGTGGAAAGATGTGGTA c.900
L K K V W K V W R S V V Q K Q W K D V V p.300
. . . . . . g.32091
GAAAGAGCTTGTCAAGCAAGAGCTGAAGAAGTTTGTATCCAGATTTCCAATGATTATGAA c.960
E R A C Q A R A E E V C I Q I S N D Y E p.320
. | 09 . . . . . g.33368
GCCAAAGTTGCTATG | TTATCTGGAGCTTTGGAAAATGCAAAAGCTGAGATTCAAAGAATG c.1020
A K V A M | L S G A L E N A K A E I Q R M p.340
. . . . . . g.33428
CAACATGAAAAAGAGCACTTTGAAGATTCCATGAAAAAAGCTTTCATGAGGGGTGTATGT c.1080
Q H E K E H F E D S M K K A F M R G V C p.360
. . . . | 10 . g.37015
GCATTAAATCTTGAAGCCATGACTATATTTCAAAACAGAAATGATGCAG | GGATAGACTCC c.1140
A L N L E A M T I F Q N R N D A G | I D S p.380
. . . . . . g.37075
ACAAATAATAAAAAGGAAGAGTATGGTCCTGGTGTTCAAGGAAAAGAACATTCTGCTCAT c.1200
T N N K K E E Y G P G V Q G K E H S A H p.400
. . . . . . g.37135
TTGGATCCTTCAGCTCCTCCGATGCCCTTACCAGTTACATCACCACTGCTGCCATCCCCA c.1260
L D P S A P P M P L P V T S P L L P S P p.420
. . . . . . g.37195
CCAGCCGCCGTCGGAGGAGCCAGCGCGACTGCCGTTCCCTCAGCTGCTTCGATGACTTCT c.1320
P A A V G G A S A T A V P S A A S M T S p.440
. . . . . . g.37255
ACCAGGGCTGCTTCCGCATCTTCTGTTCACGTTCCTGTTTCTGCTCTTGGTGCAGGATCT c.1380
T R A A S A S S V H V P V S A L G A G S p.460
. . | 11. . . . g.44571
GCAGCTACTGCTGCATCAGAAGAAATG | TATGTGCCAAGAGTTGTAACCTCTGCACAACAG c.1440
A A T A A S E E M | Y V P R V V T S A Q Q p.480
. . . . . . g.44631
AAAGCAGGAAGAACTATTACAGCCCGGATCACAGGAAGATGTGATTTTGCTTCAAAAAAT c.1500
K A G R T I T A R I T G R C D F A S K N p.500
. . . . . . g.44691
AGAATTAGCAGCAGTTTAGCTATAATGGGAGTTTCTCCTCCCATGAGCTCAGTTGTTGTG c.1560
R I S S S L A I M G V S P P M S S V V V p.520
. . | 12 . . . . g.47946
GAAAAACATCATCCAGTCACAGTG | CAAACCATTCCTCAAGCAACTGCAGCAAAATATCCC c.1620
E K H H P V T V | Q T I P Q A T A A K Y P p.540
. . . . . . g.48006
CGGACCATTCATCCTGAAAGTAGTACCTCAGCTTCCAGATCACTTGGAACCAGATCAGCT c.1680
R T I H P E S S T S A S R S L G T R S A p.560
. . . . g.48054
CACACCCAGTCTCTCACAAGTGTTCATTCCATAAAAGTGGTTGACTAA c.1728
H T Q S L T S V H S I K V V D X p.575
. . . . . . g.48114
agtgaatatgtccatagtggggtcttttaatccctctggtcttaccaagggttagaagtc c.*60
. . . . . . g.48174
ttttggttttaacttttccatattgttagaacatcatggagacatcatgttcatctgttc c.*120
. . . . . . g.48234
aaaattacaagaggctttttcaagctctaccatgctttgtaactatatgtagaaattatt c.*180
. . . . . g.48291
ttaatgttattttttatttaagcaattaagtaaaacttttttaaattaaaaaagaaa c.*237
(downstream sequence)
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