Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26048 | 78367;78368;78369 | chr2:178567990;178567989;178567988 | chr2:179432717;179432716;179432715 |
| N2AB | 24407 | 73444;73445;73446 | chr2:178567990;178567989;178567988 | chr2:179432717;179432716;179432715 |
| N2A | 23480 | 70663;70664;70665 | chr2:178567990;178567989;178567988 | chr2:179432717;179432716;179432715 |
| N2B | 16983 | 51172;51173;51174 | chr2:178567990;178567989;178567988 | chr2:179432717;179432716;179432715 |
| Novex-1 | 17108 | 51547;51548;51549 | chr2:178567990;178567989;178567988 | chr2:179432717;179432716;179432715 |
| Novex-2 | 17175 | 51748;51749;51750 | chr2:178567990;178567989;178567988 | chr2:179432717;179432716;179432715 |
| 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/A | None | None | 0.472 | N | 0.451 | 0.155 | 0.235664433957 | gnomAD-4.0.0 | 1.59194E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85953E-06 | 0 | 0 |
| T/P | rs794729508  |
-0.003 | 0.979 | N | 0.516 | 0.376 | 0.371344866733 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | I | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs794729508 |
-0.003 | 0.979 | N | 0.516 | 0.376 | 0.371344866733 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | rs794729508 |
-0.003 | 0.979 | N | 0.516 | 0.376 | 0.371344866733 | gnomAD-4.0.0 | 2.56329E-06 | None | None | None | None | I | None | 3.3849E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | rs1383437099 |
-1.365 | 0.684 | N | 0.539 | 0.255 | 0.257292322809 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/S | rs1383437099 |
-1.365 | 0.684 | N | 0.539 | 0.255 | 0.257292322809 | gnomAD-4.0.0 | 1.5919E-06 | None | None | None | None | I | None | 0 | 2.28728E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.1567 | likely_benign | 0.1613 | benign | -0.827 | Destabilizing | 0.472 | N | 0.451 | neutral | N | 0.478850749 | None | None | I |
| T/C | 0.3009 | likely_benign | 0.289 | benign | -0.523 | Destabilizing | 0.009 | N | 0.329 | neutral | None | None | None | None | I |
| T/D | 0.7048 | likely_pathogenic | 0.7195 | pathogenic | -0.873 | Destabilizing | 0.953 | D | 0.493 | neutral | None | None | None | None | I |
| T/E | 0.6164 | likely_pathogenic | 0.6257 | pathogenic | -0.706 | Destabilizing | 0.742 | D | 0.477 | neutral | None | None | None | None | I |
| T/F | 0.5287 | ambiguous | 0.5356 | ambiguous | -0.56 | Destabilizing | 0.984 | D | 0.557 | neutral | None | None | None | None | I |
| T/G | 0.3538 | ambiguous | 0.3562 | ambiguous | -1.225 | Destabilizing | 0.742 | D | 0.469 | neutral | None | None | None | None | I |
| T/H | 0.3819 | ambiguous | 0.383 | ambiguous | -1.353 | Destabilizing | 0.987 | D | 0.569 | neutral | None | None | None | None | I |
| T/I | 0.3317 | likely_benign | 0.336 | benign | 0.198 | Stabilizing | 0.939 | D | 0.489 | neutral | N | 0.505842548 | None | None | I |
| T/K | 0.2051 | likely_benign | 0.2104 | benign | -0.437 | Destabilizing | 0.59 | D | 0.424 | neutral | None | None | None | None | I |
| T/L | 0.0982 | likely_benign | 0.1028 | benign | 0.198 | Stabilizing | 0.742 | D | 0.466 | neutral | None | None | None | None | I |
| T/M | 0.1157 | likely_benign | 0.1124 | benign | 0.112 | Stabilizing | 0.984 | D | 0.527 | neutral | None | None | None | None | I |
| T/N | 0.1579 | likely_benign | 0.1637 | benign | -0.973 | Destabilizing | 0.884 | D | 0.479 | neutral | N | 0.478330544 | None | None | I |
| T/P | 0.2921 | likely_benign | 0.3143 | benign | -0.111 | Destabilizing | 0.979 | D | 0.516 | neutral | N | 0.482813995 | None | None | I |
| T/Q | 0.3027 | likely_benign | 0.2995 | benign | -0.778 | Destabilizing | 0.91 | D | 0.515 | neutral | None | None | None | None | I |
| T/R | 0.1747 | likely_benign | 0.1805 | benign | -0.578 | Destabilizing | 0.009 | N | 0.406 | neutral | None | None | None | None | I |
| T/S | 0.1908 | likely_benign | 0.1891 | benign | -1.218 | Destabilizing | 0.684 | D | 0.539 | neutral | N | 0.492586912 | None | None | I |
| T/V | 0.2188 | likely_benign | 0.2182 | benign | -0.111 | Destabilizing | 0.742 | D | 0.475 | neutral | None | None | None | None | I |
| T/W | 0.8568 | likely_pathogenic | 0.8655 | pathogenic | -0.724 | Destabilizing | 0.996 | D | 0.607 | neutral | None | None | None | None | I |
| T/Y | 0.5165 | ambiguous | 0.523 | ambiguous | -0.333 | Destabilizing | 0.984 | D | 0.555 | 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.