Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33405 | 100438;100439;100440 | chr2:178536534;178536533;178536532 | chr2:179401261;179401260;179401259 |
| N2AB | 31764 | 95515;95516;95517 | chr2:178536534;178536533;178536532 | chr2:179401261;179401260;179401259 |
| N2A | 30837 | 92734;92735;92736 | chr2:178536534;178536533;178536532 | chr2:179401261;179401260;179401259 |
| N2B | 24340 | 73243;73244;73245 | chr2:178536534;178536533;178536532 | chr2:179401261;179401260;179401259 |
| Novex-1 | 24465 | 73618;73619;73620 | chr2:178536534;178536533;178536532 | chr2:179401261;179401260;179401259 |
| Novex-2 | 24532 | 73819;73820;73821 | chr2:178536534;178536533;178536532 | chr2:179401261;179401260;179401259 |
| 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/I | None | None | 0.998 | N | 0.591 | 0.551 | 0.639332231701 | gnomAD-4.0.0 | 7.28526E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.44163E-05 | 0 |
| T/R | None | None | 0.998 | D | 0.596 | 0.439 | 0.744763759119 | gnomAD-4.0.0 | 7.28526E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.32545E-07 | 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 | 0.2276 | likely_benign | 0.2392 | benign | -0.73 | Destabilizing | 0.333 | N | 0.173 | neutral | N | 0.514078634 | None | None | N |
| T/C | 0.748 | likely_pathogenic | 0.6968 | pathogenic | -0.448 | Destabilizing | 1.0 | D | 0.55 | neutral | None | None | None | None | N |
| T/D | 0.6654 | likely_pathogenic | 0.7174 | pathogenic | -0.325 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | N |
| T/E | 0.6412 | likely_pathogenic | 0.697 | pathogenic | -0.353 | Destabilizing | 0.999 | D | 0.562 | neutral | None | None | None | None | N |
| T/F | 0.6821 | likely_pathogenic | 0.7098 | pathogenic | -0.995 | Destabilizing | 1.0 | D | 0.618 | neutral | None | None | None | None | N |
| T/G | 0.3352 | likely_benign | 0.3068 | benign | -0.944 | Destabilizing | 0.992 | D | 0.53 | neutral | None | None | None | None | N |
| T/H | 0.6431 | likely_pathogenic | 0.6407 | pathogenic | -1.339 | Destabilizing | 1.0 | D | 0.587 | neutral | None | None | None | None | N |
| T/I | 0.7472 | likely_pathogenic | 0.7841 | pathogenic | -0.262 | Destabilizing | 0.998 | D | 0.591 | neutral | N | 0.497785287 | None | None | N |
| T/K | 0.4669 | ambiguous | 0.5358 | ambiguous | -0.651 | Destabilizing | 0.998 | D | 0.559 | neutral | N | 0.47717259 | None | None | N |
| T/L | 0.3133 | likely_benign | 0.3323 | benign | -0.262 | Destabilizing | 0.992 | D | 0.507 | neutral | None | None | None | None | N |
| T/M | 0.2336 | likely_benign | 0.2391 | benign | 0.16 | Stabilizing | 1.0 | D | 0.549 | neutral | None | None | None | None | N |
| T/N | 0.2488 | likely_benign | 0.2568 | benign | -0.555 | Destabilizing | 1.0 | D | 0.575 | neutral | None | None | None | None | N |
| T/P | 0.8096 | likely_pathogenic | 0.8698 | pathogenic | -0.388 | Destabilizing | 0.998 | D | 0.596 | neutral | D | 0.524283333 | None | None | N |
| T/Q | 0.4548 | ambiguous | 0.4822 | ambiguous | -0.817 | Destabilizing | 1.0 | D | 0.578 | neutral | None | None | None | None | N |
| T/R | 0.426 | ambiguous | 0.4857 | ambiguous | -0.39 | Destabilizing | 0.998 | D | 0.596 | neutral | D | 0.527565219 | None | None | N |
| T/S | 0.1889 | likely_benign | 0.1724 | benign | -0.804 | Destabilizing | 0.978 | D | 0.459 | neutral | N | 0.475653531 | None | None | N |
| T/V | 0.5666 | likely_pathogenic | 0.5879 | pathogenic | -0.388 | Destabilizing | 0.992 | D | 0.441 | neutral | None | None | None | None | N |
| T/W | 0.9275 | likely_pathogenic | 0.9303 | pathogenic | -0.921 | Destabilizing | 1.0 | D | 0.606 | neutral | None | None | None | None | N |
| T/Y | 0.735 | likely_pathogenic | 0.7606 | pathogenic | -0.669 | Destabilizing | 1.0 | D | 0.623 | 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.