(used for variant description)
(last modified June 24, 2020)
This file was created to facilitate the description of sequence variants on transcript NM_002804.4 in the PSMC3 gene based on a coding DNA reference sequence following the HGVS recommendations.
The sequence was taken from NC_000011.9, covering PSMC3 transcript NM_002804.4.
(upstream sequence)
. g.5014
gtggccaggggttg c.-181
. . . . . . g.5074
gtctttggaatcggagaggcagattcgctgctccgcagcacggccggagctggtcgggtc c.-121
. . . . . . g.5134
aagagtcgggatttgtggggagaggttttccactggtcaagagaaggctttaagaaagac c.-61
. . . . . . g.5194
ggtattaatctcccgttgcggctcccgcctggtcccatcttctgcccgctcctccaggaa c.-1
. . . . . . g.5254
ATGAATCTGCTGCCGAATATTGAGAGTCCAGTGACTCGGCAGGAGAAGATGGCGACCGTG c.60
M N L L P N I E S P V T R Q E K M A T V p.20
. | 02 . . . . . g.5568
TGGGATGAGGCCGAG | CAAGATGGAATTGGGGAGGAGGTGCTCAAGATGTCCACGGAGGAG c.120
W D E A E | Q D G I G E E V L K M S T E E p.40
. . . | 03 . . g.6248
ATCATCCAGCGCACACGGCTGCTGGACAGTGAGATCAAG | ATCATGAAGAGTGAAGTGTTG c.180
I I Q R T R L L D S E I K | I M K S E V L p.60
. . . . . . g.6308
AGAGTCACCCATGAGCTCCAAGCCATGAAGGACAAGATAAAAGAGAACAGTGAGAAAATC c.240
R V T H E L Q A M K D K I K E N S E K I p.80
. . . . | 04 . . g.6777
AAAGTGAACAAGACCCTGCCGTACCTTGTCTCCAACGTCATCGAG | CTCCTGGATGTTGAT c.300
K V N K T L P Y L V S N V I E | L L D V D p.100
. . . . . . g.6837
CCTAATGACCAAGAGGAGGATGGTGCCAATATTGACCTGGACTCCCAGAGGAAGGGCAAG c.360
P N D Q E E D G A N I D L D S Q R K G K p.120
. . . | 05 . . . g.7012
TGTGCTGTGATCAAAACCTCTACACGACAG | ACGTACTTCCTTCCTGTGATTGGGTTGGTG c.420
C A V I K T S T R Q | T Y F L P V I G L V p.140
. . . | 06 . . . g.7317
GATGCTGAAAAGCTAAAGCCAGGAGACCTGGTG | GGTGTGAACAAAGACTCCTATCTGATC c.480
D A E K L K P G D L V | G V N K D S Y L I p.160
. . . . . . g.7377
CTGGAGACGCTGCCCACAGAGTATGACTCGCGGGTGAAGGCCATGGAGGTAGACGAGAGG c.540
L E T L P T E Y D S R V K A M E V D E R p.180
. . . . . | 07 . g.8509
CCCACGGAGCAATACAGTGACATTGGGGGTTTGGACAAGCAGATCCAGGAG | CTGGTGGAG c.600
P T E Q Y S D I G G L D K Q I Q E | L V E p.200
. . . . . . g.8569
GCCATTGTCTTGCCAATGAACCACAAGGAGAAGTTTGAGAACTTGGGGATCCAACCTCCA c.660
A I V L P M N H K E K F E N L G I Q P P p.220
. . . . . . g.8629
AAAGGGGTGCTGATGTATGGGCCCCCAGGGACGGGGAAGACCCTCCTGGCCCGGGCCTGT c.720
K G V L M Y G P P G T G K T L L A R A C p.240
. | 08 . . . . . g.8796
GCCGCACAGACTAAG | GCCACCTTCCTAAAGCTGGCTGGCCCCCAGCTGGTGCAGATGTTC c.780
A A Q T K | A T F L K L A G P Q L V Q M F p.260
. . . . . . g.8856
ATTGGAGATGGTGCCAAGCTAGTCCGGGATGCCTTTGCCCTGGCCAAGGAGAAAGCGCCC c.840
I G D G A K L V R D A F A L A K E K A P p.280
. . . . | 09 . . g.10762
TCTATCATCTTCATTGATGAGTTGGATGCCATCGGCACCAAGCG | CTTTGACAGTGAGAAG c.900
S I I F I D E L D A I G T K R | F D S E K p.300
. . . . . . g.10822
GCTGGGGACCGGGAGGTGCAGAGGACAATGCTGGAGCTTCTGAACCAGCTGGATGGCTTC c.960
A G D R E V Q R T M L E L L N Q L D G F p.320
. . | 10 . . . . g.11103
CAGCCCAACACCCAAGTTAAG | GTAATTGCAGCCACAAACAGGGTGGACATCCTGGACCCC c.1020
Q P N T Q V K | V I A A T N R V D I L D P p.340
. . . . . . g.11163
GCCCTCCTCCGCTCGGGCCGCCTTGACCGCAAGATAGAGTTCCCGATGCCCAATGAGGAG c.1080
A L L R S G R L D R K I E F P M P N E E p.360
. . . . | 11. . g.12289
GCCCGGGCCAGAATCATGCAGATCCACTCCCGAAAGATGAATGTCAG | TCCTGACGTGAAC c.1140
A R A R I M Q I H S R K M N V S | P D V N p.380
. . . . . . g.12349
TACGAGGAGCTGGCCCGCTGCACAGATGACTTCAATGGGGCCCAGTGCAAGGCTGTGTGT c.1200
Y E E L A R C T D D F N G A Q C K A V C p.400
| 12 . . . . . g.12579
GTGGAGGCG | GGCATGATCGCACTGCGCAGGGGTGCCACGGAGCTCACCCACGAGGACTAC c.1260
V E A | G M I A L R R G A T E L T H E D Y p.420
. . . . . . g.12639
ATGGAAGGCATCCTGGAGGTGCAGGCCAAGAAGAAAGCCAACCTACAATACTACGCCTAG c.1320
M E G I L E V Q A K K K A N L Q Y Y A X p.439
. . . . . . g.12699
ggcacacaggccagccccagtctcacggctgaagtgcgcaataaaagatggtttagggtc c.*60
g.12705
cctgcc c.*66
(downstream sequence)
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