Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 15872 | 47839;47840;47841 | chr2:178617471;178617470;178617469 | chr2:179482198;179482197;179482196 |
| N2AB | 14231 | 42916;42917;42918 | chr2:178617471;178617470;178617469 | chr2:179482198;179482197;179482196 |
| N2A | 13304 | 40135;40136;40137 | chr2:178617471;178617470;178617469 | chr2:179482198;179482197;179482196 |
| N2B | 6807 | 20644;20645;20646 | chr2:178617471;178617470;178617469 | chr2:179482198;179482197;179482196 |
| Novex-1 | 6932 | 21019;21020;21021 | chr2:178617471;178617470;178617469 | chr2:179482198;179482197;179482196 |
| Novex-2 | 6999 | 21220;21221;21222 | chr2:178617471;178617470;178617469 | chr2:179482198;179482197;179482196 |
| 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 | rs753053572  |
-0.57 | 0.953 | N | 0.495 | 0.211 | 0.159798565429 | gnomAD-2.1.1 | 4.32E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.75E-05 | None | 0 | 0 | 0 |
| T/S | rs753053572 |
-0.57 | 0.953 | N | 0.495 | 0.211 | 0.159798565429 | gnomAD-4.0.0 | 3.26347E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 3.05036E-05 | 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 | 0.2393 | likely_benign | 0.2799 | benign | -0.4 | Destabilizing | 0.977 | D | 0.439 | neutral | N | 0.477614612 | None | None | N |
| T/C | 0.6227 | likely_pathogenic | 0.6612 | pathogenic | -0.564 | Destabilizing | 1.0 | D | 0.446 | neutral | None | None | None | None | N |
| T/D | 0.3309 | likely_benign | 0.4129 | ambiguous | -1.523 | Destabilizing | 0.971 | D | 0.405 | neutral | None | None | None | None | N |
| T/E | 0.4435 | ambiguous | 0.515 | ambiguous | -1.541 | Destabilizing | 0.985 | D | 0.409 | neutral | None | None | None | None | N |
| T/F | 0.5045 | ambiguous | 0.5621 | ambiguous | -0.957 | Destabilizing | 0.999 | D | 0.52 | neutral | None | None | None | None | N |
| T/G | 0.3051 | likely_benign | 0.3412 | ambiguous | -0.575 | Destabilizing | 0.985 | D | 0.427 | neutral | None | None | None | None | N |
| T/H | 0.3665 | ambiguous | 0.4238 | ambiguous | -1.062 | Destabilizing | 0.998 | D | 0.519 | neutral | None | None | None | None | N |
| T/I | 0.5388 | ambiguous | 0.5772 | pathogenic | -0.036 | Destabilizing | 0.999 | D | 0.425 | neutral | D | 0.581085273 | None | None | N |
| T/K | 0.2545 | likely_benign | 0.2728 | benign | -0.546 | Destabilizing | 0.985 | D | 0.407 | neutral | None | None | None | None | N |
| T/L | 0.2334 | likely_benign | 0.2765 | benign | -0.036 | Destabilizing | 0.993 | D | 0.411 | neutral | None | None | None | None | N |
| T/M | 0.1811 | likely_benign | 0.2093 | benign | 0.42 | Stabilizing | 1.0 | D | 0.427 | neutral | None | None | None | None | N |
| T/N | 0.1004 | likely_benign | 0.1246 | benign | -0.794 | Destabilizing | 0.219 | N | 0.145 | neutral | N | 0.486347872 | None | None | N |
| T/P | 0.5827 | likely_pathogenic | 0.6254 | pathogenic | -0.129 | Destabilizing | 0.999 | D | 0.423 | neutral | D | 0.621274175 | None | None | N |
| T/Q | 0.3198 | likely_benign | 0.36 | ambiguous | -1.162 | Destabilizing | 0.998 | D | 0.419 | neutral | None | None | None | None | N |
| T/R | 0.2637 | likely_benign | 0.2874 | benign | -0.195 | Destabilizing | 0.998 | D | 0.385 | neutral | None | None | None | None | N |
| T/S | 0.1198 | likely_benign | 0.1452 | benign | -0.775 | Destabilizing | 0.953 | D | 0.495 | neutral | N | 0.469920777 | None | None | N |
| T/V | 0.4236 | ambiguous | 0.456 | ambiguous | -0.129 | Destabilizing | 0.998 | D | 0.403 | neutral | None | None | None | None | N |
| T/W | 0.8269 | likely_pathogenic | 0.8561 | pathogenic | -1.017 | Destabilizing | 1.0 | D | 0.551 | neutral | None | None | None | None | N |
| T/Y | 0.4724 | ambiguous | 0.5357 | ambiguous | -0.624 | Destabilizing | 0.999 | D | 0.518 | 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.