Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30638 | 92137;92138;92139 | chr2:178549810;178549809;178549808 | chr2:179414537;179414536;179414535 |
| N2AB | 28997 | 87214;87215;87216 | chr2:178549810;178549809;178549808 | chr2:179414537;179414536;179414535 |
| N2A | 28070 | 84433;84434;84435 | chr2:178549810;178549809;178549808 | chr2:179414537;179414536;179414535 |
| N2B | 21573 | 64942;64943;64944 | chr2:178549810;178549809;178549808 | chr2:179414537;179414536;179414535 |
| Novex-1 | 21698 | 65317;65318;65319 | chr2:178549810;178549809;178549808 | chr2:179414537;179414536;179414535 |
| Novex-2 | 21765 | 65518;65519;65520 | chr2:178549810;178549809;178549808 | chr2:179414537;179414536;179414535 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/S | rs1180915423  |
-1.313 | 0.996 | N | 0.505 | 0.368 | 0.259761712551 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| T/S | rs1180915423 |
-1.313 | 0.996 | N | 0.505 | 0.368 | 0.259761712551 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/S | rs1180915423 |
-1.313 | 0.996 | N | 0.505 | 0.368 | 0.259761712551 | gnomAD-4.0.0 | 6.5722E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.46998E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1628 | likely_benign | 0.2041 | benign | -1.234 | Destabilizing | 0.998 | D | 0.487 | neutral | N | 0.471839765 | None | None | N |
| T/C | 0.5218 | ambiguous | 0.6014 | pathogenic | -0.891 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| T/D | 0.6529 | likely_pathogenic | 0.7961 | pathogenic | -1.586 | Destabilizing | 0.998 | D | 0.641 | neutral | None | None | None | None | N |
| T/E | 0.6028 | likely_pathogenic | 0.7106 | pathogenic | -1.401 | Destabilizing | 0.999 | D | 0.641 | neutral | None | None | None | None | N |
| T/F | 0.4401 | ambiguous | 0.592 | pathogenic | -0.863 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| T/G | 0.4806 | ambiguous | 0.5733 | pathogenic | -1.627 | Destabilizing | 0.997 | D | 0.609 | neutral | None | None | None | None | N |
| T/H | 0.3474 | ambiguous | 0.5011 | ambiguous | -1.728 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| T/I | 0.2761 | likely_benign | 0.3387 | benign | -0.205 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.492337103 | None | None | N |
| T/K | 0.4307 | ambiguous | 0.5685 | pathogenic | -0.665 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| T/L | 0.1805 | likely_benign | 0.2412 | benign | -0.205 | Destabilizing | 0.998 | D | 0.572 | neutral | None | None | None | None | N |
| T/M | 0.1096 | likely_benign | 0.1321 | benign | -0.224 | Destabilizing | 1.0 | D | 0.737 | prob.delet. | None | None | None | None | N |
| T/N | 0.1654 | likely_benign | 0.274 | benign | -1.277 | Destabilizing | 0.884 | D | 0.348 | neutral | N | 0.470118245 | None | None | N |
| T/P | 0.7747 | likely_pathogenic | 0.8814 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | D | 0.524128295 | None | None | N |
| T/Q | 0.3278 | likely_benign | 0.4262 | ambiguous | -1.091 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| T/R | 0.3752 | ambiguous | 0.5313 | ambiguous | -0.828 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| T/S | 0.1553 | likely_benign | 0.2109 | benign | -1.471 | Destabilizing | 0.996 | D | 0.505 | neutral | N | 0.511323543 | None | None | N |
| T/V | 0.2086 | likely_benign | 0.2385 | benign | -0.518 | Destabilizing | 1.0 | D | 0.508 | neutral | None | None | None | None | N |
| T/W | 0.7517 | likely_pathogenic | 0.8652 | pathogenic | -1.018 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| T/Y | 0.4205 | ambiguous | 0.5732 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.781 | deleterious | 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.