Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8605 | 26038;26039;26040 | chr2:178715601;178715600;178715599 | chr2:179580328;179580327;179580326 |
| N2AB | 8288 | 25087;25088;25089 | chr2:178715601;178715600;178715599 | chr2:179580328;179580327;179580326 |
| N2A | 7361 | 22306;22307;22308 | chr2:178715601;178715600;178715599 | chr2:179580328;179580327;179580326 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | None | None | 1.0 | N | 0.709 | 0.353 | 0.212008924253 | gnomAD-4.0.0 | 1.59158E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8591E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8273 | likely_pathogenic | 0.8112 | pathogenic | -0.788 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/D | 0.9888 | likely_pathogenic | 0.9866 | pathogenic | -2.259 | Highly Destabilizing | 1.0 | D | 0.873 | deleterious | N | 0.470455461 | None | None | N |
| A/E | 0.9805 | likely_pathogenic | 0.9762 | pathogenic | -2.013 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/F | 0.9003 | likely_pathogenic | 0.8781 | pathogenic | -0.49 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/G | 0.347 | ambiguous | 0.3272 | benign | -1.415 | Destabilizing | 0.998 | D | 0.573 | neutral | N | 0.5008074 | None | None | N |
| A/H | 0.9827 | likely_pathogenic | 0.9796 | pathogenic | -2.021 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| A/I | 0.811 | likely_pathogenic | 0.7751 | pathogenic | 0.535 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/K | 0.9937 | likely_pathogenic | 0.9921 | pathogenic | -0.927 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| A/L | 0.6602 | likely_pathogenic | 0.6259 | pathogenic | 0.535 | Stabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | N |
| A/M | 0.7582 | likely_pathogenic | 0.7226 | pathogenic | 0.251 | Stabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/N | 0.9722 | likely_pathogenic | 0.9655 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| A/P | 0.9157 | likely_pathogenic | 0.8713 | pathogenic | 0.103 | Stabilizing | 1.0 | D | 0.848 | deleterious | N | 0.508056323 | None | None | N |
| A/Q | 0.97 | likely_pathogenic | 0.9653 | pathogenic | -1.045 | Destabilizing | 1.0 | D | 0.85 | deleterious | None | None | None | None | N |
| A/R | 0.9806 | likely_pathogenic | 0.9773 | pathogenic | -1.201 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| A/S | 0.3769 | ambiguous | 0.3361 | benign | -1.72 | Destabilizing | 0.997 | D | 0.575 | neutral | N | 0.498361741 | None | None | N |
| A/T | 0.5346 | ambiguous | 0.4889 | ambiguous | -1.339 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | N | 0.458210102 | None | None | N |
| A/V | 0.4777 | ambiguous | 0.4426 | ambiguous | 0.103 | Stabilizing | 1.0 | D | 0.613 | neutral | N | 0.463641378 | None | None | N |
| A/W | 0.9903 | likely_pathogenic | 0.9879 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/Y | 0.9627 | likely_pathogenic | 0.9546 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.881 | 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.