Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 30611 | 92056;92057;92058 | chr2:178550007;178550006;178550005 | chr2:179414734;179414733;179414732 |
N2AB | 28970 | 87133;87134;87135 | chr2:178550007;178550006;178550005 | chr2:179414734;179414733;179414732 |
N2A | 28043 | 84352;84353;84354 | chr2:178550007;178550006;178550005 | chr2:179414734;179414733;179414732 |
N2B | 21546 | 64861;64862;64863 | chr2:178550007;178550006;178550005 | chr2:179414734;179414733;179414732 |
Novex-1 | 21671 | 65236;65237;65238 | chr2:178550007;178550006;178550005 | chr2:179414734;179414733;179414732 |
Novex-2 | 21738 | 65437;65438;65439 | chr2:178550007;178550006;178550005 | chr2:179414734;179414733;179414732 |
Novex-3 | None | None | chr2:None | chr2:None |
SNV | RS | DUET |
PolyPhen-2 |
Condel |
Rhapsody |
REVEL |
MVP |
Source |
MAF |
Disease |
Zygosity |
Site annotation |
mCSM PPI |
Predicted PPI site |
Comments |
AFR |
AMR |
AMS |
ASJ |
EAS |
EUR |
FIN |
MDE |
NFE |
SAS |
OTH |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | None | None | 0.027 | N | 0.457 | 0.24 | 0.281381271821 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
E/K | rs769702560 | -0.068 | 0.027 | N | 0.367 | 0.137 | 0.241664281697 | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.34E-05 | None | 0 | 0 | 0 |
E/K | rs769702560 | -0.068 | 0.027 | N | 0.367 | 0.137 | 0.241664281697 | gnomAD-4.0.0 | 1.37352E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.33465E-05 | 0 |
SAV |
AlphaMissense (IC) |
AlphaMissense Class (IC) |
AlphaMissense (N2AB) |
AlphaMissense Class (N2AB) |
mCSM |
mCSM class |
PolyPhen-2 |
PolyPhen-2 Class |
Rhapsody |
Rhapsody Class |
Condel |
Condel Score |
Site annotation |
mCSM PPI |
Predicted PPI site |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
E/A | 0.1115 | likely_benign | 0.1228 | benign | -0.388 | Destabilizing | 0.027 | N | 0.457 | neutral | N | 0.441322819 | None | None | N |
E/C | 0.6421 | likely_pathogenic | 0.6927 | pathogenic | -0.14 | Destabilizing | 0.935 | D | 0.625 | neutral | None | None | None | None | N |
E/D | 0.0743 | likely_benign | 0.0891 | benign | -0.404 | Destabilizing | None | N | 0.122 | neutral | N | 0.437821154 | None | None | N |
E/F | 0.5653 | likely_pathogenic | 0.6508 | pathogenic | -0.188 | Destabilizing | 0.791 | D | 0.606 | neutral | None | None | None | None | N |
E/G | 0.1346 | likely_benign | 0.1539 | benign | -0.606 | Destabilizing | 0.052 | N | 0.525 | neutral | D | 0.524074702 | None | None | N |
E/H | 0.3042 | likely_benign | 0.3461 | ambiguous | 0.021 | Stabilizing | 0.555 | D | 0.529 | neutral | None | None | None | None | N |
E/I | 0.2201 | likely_benign | 0.256 | benign | 0.159 | Stabilizing | 0.555 | D | 0.621 | neutral | None | None | None | None | N |
E/K | 0.1379 | likely_benign | 0.1419 | benign | 0.207 | Stabilizing | 0.027 | N | 0.367 | neutral | N | 0.484129447 | None | None | N |
E/L | 0.2831 | likely_benign | 0.331 | benign | 0.159 | Stabilizing | 0.149 | N | 0.63 | neutral | None | None | None | None | N |
E/M | 0.3111 | likely_benign | 0.3526 | ambiguous | 0.204 | Stabilizing | 0.824 | D | 0.585 | neutral | None | None | None | None | N |
E/N | 0.1196 | likely_benign | 0.16 | benign | -0.147 | Destabilizing | 0.081 | N | 0.327 | neutral | None | None | None | None | N |
E/P | 0.4853 | ambiguous | 0.5382 | ambiguous | -0.002 | Destabilizing | 0.262 | N | 0.583 | neutral | None | None | None | None | N |
E/Q | 0.1127 | likely_benign | 0.1142 | benign | -0.094 | Destabilizing | 0.002 | N | 0.201 | neutral | N | 0.471472368 | None | None | N |
E/R | 0.2305 | likely_benign | 0.242 | benign | 0.455 | Stabilizing | 0.081 | N | 0.477 | neutral | None | None | None | None | N |
E/S | 0.111 | likely_benign | 0.1339 | benign | -0.312 | Destabilizing | 0.035 | N | 0.375 | neutral | None | None | None | None | N |
E/T | 0.1169 | likely_benign | 0.1328 | benign | -0.135 | Destabilizing | 0.149 | N | 0.504 | neutral | None | None | None | None | N |
E/V | 0.1393 | likely_benign | 0.1545 | benign | -0.002 | Destabilizing | 0.117 | N | 0.619 | neutral | N | 0.474686031 | None | None | N |
E/W | 0.8044 | likely_pathogenic | 0.8472 | pathogenic | -0.023 | Destabilizing | 0.935 | D | 0.669 | neutral | None | None | None | None | N |
E/Y | 0.4457 | ambiguous | 0.5106 | ambiguous | 0.054 | Stabilizing | 0.555 | D | 0.603 | neutral | None | None | None | None | N |
Titin has multiple isoforms, the longest being the theoretical IC (inferred complete) isoform which contains all 363 in-frame titin exons. Here all isoform positions have been mapped onto the IC sequence, with an exception being the C-terminal of the much shorter novex-3 isoform. This contains the out of frame exon 48 which cannot be mapped to the other isoforms.