Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 24107 | 72544;72545;72546 | chr2:178573813;178573812;178573811 | chr2:179438540;179438539;179438538 |
| N2AB | 22466 | 67621;67622;67623 | chr2:178573813;178573812;178573811 | chr2:179438540;179438539;179438538 |
| N2A | 21539 | 64840;64841;64842 | chr2:178573813;178573812;178573811 | chr2:179438540;179438539;179438538 |
| N2B | 15042 | 45349;45350;45351 | chr2:178573813;178573812;178573811 | chr2:179438540;179438539;179438538 |
| Novex-1 | 15167 | 45724;45725;45726 | chr2:178573813;178573812;178573811 | chr2:179438540;179438539;179438538 |
| Novex-2 | 15234 | 45925;45926;45927 | chr2:178573813;178573812;178573811 | chr2:179438540;179438539;179438538 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 1.0 | N | 0.569 | 0.349 | 0.358134431457 | gnomAD-4.0.0 | 8.40227E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.18753E-06 | 0 | 0 |
| P/H | None | None | 1.0 | N | 0.689 | 0.457 | 0.686132537371 | gnomAD-4.0.0 | 6.8518E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00533E-07 | 0 | 0 |
| P/T | rs1709102867  |
None | 1.0 | N | 0.627 | 0.386 | 0.521384976177 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| P/T | rs1709102867 |
None | 1.0 | N | 0.627 | 0.386 | 0.521384976177 | gnomAD-4.0.0 | 6.57635E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1119 | likely_benign | 0.1117 | benign | -0.281 | Destabilizing | 1.0 | D | 0.569 | neutral | N | 0.485822958 | None | None | I |
| P/C | 0.7209 | likely_pathogenic | 0.7228 | pathogenic | -0.706 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | I |
| P/D | 0.7458 | likely_pathogenic | 0.7333 | pathogenic | -0.289 | Destabilizing | 1.0 | D | 0.623 | neutral | None | None | None | None | I |
| P/E | 0.5337 | ambiguous | 0.4992 | ambiguous | -0.412 | Destabilizing | 1.0 | D | 0.628 | neutral | None | None | None | None | I |
| P/F | 0.6612 | likely_pathogenic | 0.6838 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | I |
| P/G | 0.5653 | likely_pathogenic | 0.5442 | ambiguous | -0.333 | Destabilizing | 1.0 | D | 0.699 | prob.neutral | None | None | None | None | I |
| P/H | 0.4118 | ambiguous | 0.4031 | ambiguous | -0.025 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | N | 0.491884528 | None | None | I |
| P/I | 0.2864 | likely_benign | 0.2914 | benign | -0.291 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | I |
| P/K | 0.5553 | ambiguous | 0.5136 | ambiguous | -0.302 | Destabilizing | 1.0 | D | 0.626 | neutral | None | None | None | None | I |
| P/L | 0.1627 | likely_benign | 0.1711 | benign | -0.291 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | N | 0.509950611 | None | None | I |
| P/M | 0.3777 | ambiguous | 0.3791 | ambiguous | -0.478 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | I |
| P/N | 0.5858 | likely_pathogenic | 0.5901 | pathogenic | -0.072 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | I |
| P/Q | 0.3611 | ambiguous | 0.3423 | ambiguous | -0.29 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | I |
| P/R | 0.3881 | ambiguous | 0.3445 | ambiguous | 0.121 | Stabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.498117464 | None | None | I |
| P/S | 0.2502 | likely_benign | 0.254 | benign | -0.371 | Destabilizing | 1.0 | D | 0.624 | neutral | N | 0.471832153 | None | None | I |
| P/T | 0.135 | likely_benign | 0.1377 | benign | -0.403 | Destabilizing | 1.0 | D | 0.627 | neutral | N | 0.488863263 | None | None | I |
| P/V | 0.1904 | likely_benign | 0.1928 | benign | -0.26 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | I |
| P/W | 0.8491 | likely_pathogenic | 0.8421 | pathogenic | -0.789 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| P/Y | 0.6828 | likely_pathogenic | 0.6819 | pathogenic | -0.499 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | 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.