Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25731 | 77416;77417;77418 | chr2:178568941;178568940;178568939 | chr2:179433668;179433667;179433666 |
| N2AB | 24090 | 72493;72494;72495 | chr2:178568941;178568940;178568939 | chr2:179433668;179433667;179433666 |
| N2A | 23163 | 69712;69713;69714 | chr2:178568941;178568940;178568939 | chr2:179433668;179433667;179433666 |
| N2B | 16666 | 50221;50222;50223 | chr2:178568941;178568940;178568939 | chr2:179433668;179433667;179433666 |
| Novex-1 | 16791 | 50596;50597;50598 | chr2:178568941;178568940;178568939 | chr2:179433668;179433667;179433666 |
| Novex-2 | 16858 | 50797;50798;50799 | chr2:178568941;178568940;178568939 | chr2:179433668;179433667;179433666 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/F | rs1465344199  |
-0.718 | 0.487 | N | 0.369 | 0.151 | 0.495103902096 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| I/F | rs1465344199 |
-0.718 | 0.487 | N | 0.369 | 0.151 | 0.495103902096 | gnomAD-4.0.0 | 6.8434E-07 | None | None | None | None | I | None | 2.99043E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| I/L | None | None | None | N | 0.059 | 0.056 | 0.388653054685 | gnomAD-4.0.0 | 1.36868E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79919E-06 | 0 | 0 |
| I/T | None | None | 0.007 | N | 0.149 | 0.136 | 0.431490205687 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.2435 | likely_benign | 0.2335 | benign | -1.063 | Destabilizing | 0.061 | N | 0.365 | neutral | None | None | None | None | I |
| I/C | 0.6073 | likely_pathogenic | 0.5877 | pathogenic | -0.667 | Destabilizing | 0.94 | D | 0.387 | neutral | None | None | None | None | I |
| I/D | 0.6059 | likely_pathogenic | 0.5952 | pathogenic | -0.746 | Destabilizing | 0.418 | N | 0.408 | neutral | None | None | None | None | I |
| I/E | 0.49 | ambiguous | 0.4823 | ambiguous | -0.818 | Destabilizing | 0.418 | N | 0.429 | neutral | None | None | None | None | I |
| I/F | 0.1435 | likely_benign | 0.1479 | benign | -0.869 | Destabilizing | 0.487 | N | 0.369 | neutral | N | 0.511515544 | None | None | I |
| I/G | 0.4635 | ambiguous | 0.4564 | ambiguous | -1.283 | Destabilizing | 0.418 | N | 0.409 | neutral | None | None | None | None | I |
| I/H | 0.3816 | ambiguous | 0.3833 | ambiguous | -0.505 | Destabilizing | 0.983 | D | 0.397 | neutral | None | None | None | None | I |
| I/K | 0.3749 | ambiguous | 0.3599 | ambiguous | -0.781 | Destabilizing | 0.418 | N | 0.405 | neutral | None | None | None | None | I |
| I/L | 0.0763 | likely_benign | 0.0697 | benign | -0.58 | Destabilizing | None | N | 0.059 | neutral | N | 0.405636086 | None | None | I |
| I/M | 0.0887 | likely_benign | 0.0877 | benign | -0.482 | Destabilizing | 0.655 | D | 0.409 | neutral | N | 0.506840443 | None | None | I |
| I/N | 0.1768 | likely_benign | 0.1796 | benign | -0.515 | Destabilizing | 0.351 | N | 0.407 | neutral | N | 0.483251507 | None | None | I |
| I/P | 0.8806 | likely_pathogenic | 0.846 | pathogenic | -0.708 | Destabilizing | 0.836 | D | 0.438 | neutral | None | None | None | None | I |
| I/Q | 0.3235 | likely_benign | 0.3207 | benign | -0.768 | Destabilizing | 0.836 | D | 0.445 | neutral | None | None | None | None | I |
| I/R | 0.3174 | likely_benign | 0.3028 | benign | -0.115 | Destabilizing | 0.836 | D | 0.439 | neutral | None | None | None | None | I |
| I/S | 0.162 | likely_benign | 0.1615 | benign | -0.968 | Destabilizing | 0.009 | N | 0.154 | neutral | N | 0.429243664 | None | None | I |
| I/T | 0.1066 | likely_benign | 0.1104 | benign | -0.935 | Destabilizing | 0.007 | N | 0.149 | neutral | N | 0.342584685 | None | None | I |
| I/V | 0.0829 | likely_benign | 0.0834 | benign | -0.708 | Destabilizing | 0.047 | N | 0.233 | neutral | N | 0.452851243 | None | None | I |
| I/W | 0.7599 | likely_pathogenic | 0.7268 | pathogenic | -0.885 | Destabilizing | 0.983 | D | 0.426 | neutral | None | None | None | None | I |
| I/Y | 0.4797 | ambiguous | 0.4646 | ambiguous | -0.679 | Destabilizing | 0.836 | D | 0.412 | 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.