Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27951 | 84076;84077;84078 | chr2:178562281;178562280;178562279 | chr2:179427008;179427007;179427006 |
| N2AB | 26310 | 79153;79154;79155 | chr2:178562281;178562280;178562279 | chr2:179427008;179427007;179427006 |
| N2A | 25383 | 76372;76373;76374 | chr2:178562281;178562280;178562279 | chr2:179427008;179427007;179427006 |
| N2B | 18886 | 56881;56882;56883 | chr2:178562281;178562280;178562279 | chr2:179427008;179427007;179427006 |
| Novex-1 | 19011 | 57256;57257;57258 | chr2:178562281;178562280;178562279 | chr2:179427008;179427007;179427006 |
| Novex-2 | 19078 | 57457;57458;57459 | chr2:178562281;178562280;178562279 | chr2:179427008;179427007;179427006 |
| Novex-3 | None | None | chr2:None | chr2:None |
Information
Reported SAVs
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | None | None | 0.006 | N | 0.083 | 0.161 | 0.149567049428 | gnomAD-4.0.0 | 4.80129E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.25001E-06 | 0 | 0 |
| G/E | rs1316247758  |
None | 0.007 | N | 0.333 | 0.234 | 0.349204839081 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/E | rs1316247758 |
None | 0.007 | N | 0.333 | 0.234 | 0.349204839081 | gnomAD-4.0.0 | 2.0299E-06 | None | None | None | None | I | None | 1.74746E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.40229E-05 |
| G/R | rs786205374 |
None | 0.779 | N | 0.531 | 0.263 | 0.65198356138 | gnomAD-4.0.0 | 2.05312E-06 | None | None | None | None | I | None | 2.98882E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79912E-06 | 0 | 0 |
Saturation Mutagenesis
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.1588 | likely_benign | 0.1743 | benign | -0.398 | Destabilizing | 0.006 | N | 0.083 | neutral | N | 0.426057004 | None | None | I |
| G/C | 0.467 | ambiguous | 0.4999 | ambiguous | -1.121 | Destabilizing | 0.991 | D | 0.556 | neutral | None | None | None | None | I |
| G/D | 0.6818 | likely_pathogenic | 0.7261 | pathogenic | -0.819 | Destabilizing | 0.4 | N | 0.401 | neutral | None | None | None | None | I |
| G/E | 0.6915 | likely_pathogenic | 0.7463 | pathogenic | -0.949 | Destabilizing | 0.007 | N | 0.333 | neutral | N | 0.470463929 | None | None | I |
| G/F | 0.8322 | likely_pathogenic | 0.855 | pathogenic | -1.019 | Destabilizing | 0.824 | D | 0.632 | neutral | None | None | None | None | I |
| G/H | 0.7865 | likely_pathogenic | 0.8111 | pathogenic | -0.36 | Destabilizing | 0.973 | D | 0.476 | neutral | None | None | None | None | I |
| G/I | 0.57 | likely_pathogenic | 0.6074 | pathogenic | -0.555 | Destabilizing | 0.04 | N | 0.472 | neutral | None | None | None | None | I |
| G/K | 0.8911 | likely_pathogenic | 0.9122 | pathogenic | -0.936 | Destabilizing | 0.4 | N | 0.425 | neutral | None | None | None | None | I |
| G/L | 0.6308 | likely_pathogenic | 0.6611 | pathogenic | -0.555 | Destabilizing | 0.216 | N | 0.433 | neutral | None | None | None | None | I |
| G/M | 0.6902 | likely_pathogenic | 0.7125 | pathogenic | -0.865 | Destabilizing | 0.216 | N | 0.427 | neutral | None | None | None | None | I |
| G/N | 0.5886 | likely_pathogenic | 0.5913 | pathogenic | -0.713 | Destabilizing | 0.824 | D | 0.375 | neutral | None | None | None | None | I |
| G/P | 0.7999 | likely_pathogenic | 0.8022 | pathogenic | -0.476 | Destabilizing | 0.905 | D | 0.53 | neutral | None | None | None | None | I |
| G/Q | 0.7247 | likely_pathogenic | 0.7586 | pathogenic | -0.947 | Destabilizing | 0.7 | D | 0.529 | neutral | None | None | None | None | I |
| G/R | 0.7695 | likely_pathogenic | 0.8115 | pathogenic | -0.471 | Destabilizing | 0.779 | D | 0.531 | neutral | N | 0.519372597 | None | None | I |
| G/S | 0.1619 | likely_benign | 0.1698 | benign | -0.846 | Destabilizing | 0.4 | N | 0.279 | neutral | None | None | None | None | I |
| G/T | 0.3127 | likely_benign | 0.3318 | benign | -0.909 | Destabilizing | 0.571 | D | 0.438 | neutral | None | None | None | None | I |
| G/V | 0.4107 | ambiguous | 0.4499 | ambiguous | -0.476 | Destabilizing | 0.335 | N | 0.451 | neutral | N | 0.460633725 | None | None | I |
| G/W | 0.7583 | likely_pathogenic | 0.7958 | pathogenic | -1.134 | Destabilizing | 0.991 | D | 0.554 | neutral | None | None | None | None | I |
| G/Y | 0.7759 | likely_pathogenic | 0.801 | pathogenic | -0.838 | Destabilizing | 0.966 | D | 0.574 | neutral | None | None | None | None | I |
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.