Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2634 | 8125;8126;8127 | chr2:178771427;178771426;178771425 | chr2:179636154;179636153;179636152 |
| N2AB | 2634 | 8125;8126;8127 | chr2:178771427;178771426;178771425 | chr2:179636154;179636153;179636152 |
| N2A | 2634 | 8125;8126;8127 | chr2:178771427;178771426;178771425 | chr2:179636154;179636153;179636152 |
| N2B | 2588 | 7987;7988;7989 | chr2:178771427;178771426;178771425 | chr2:179636154;179636153;179636152 |
| Novex-1 | 2588 | 7987;7988;7989 | chr2:178771427;178771426;178771425 | chr2:179636154;179636153;179636152 |
| Novex-2 | 2588 | 7987;7988;7989 | chr2:178771427;178771426;178771425 | chr2:179636154;179636153;179636152 |
| Novex-3 | 2634 | 8125;8126;8127 | chr2:178771427;178771426;178771425 | chr2:179636154;179636153;179636152 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/P | rs1488243679  |
-0.459 | 1.0 | N | 0.729 | 0.544 | 0.431150418975 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 1.14705E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/P | rs1488243679 |
-0.459 | 1.0 | N | 0.729 | 0.544 | 0.431150418975 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78927E-04 |
| S/P | rs1488243679 |
-0.459 | 1.0 | N | 0.729 | 0.544 | 0.431150418975 | gnomAD-4.0.0 | 5.12341E-06 | None | None | None | None | N | None | 3.38215E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 5.68666E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1779 | likely_benign | 0.207 | benign | -0.291 | Destabilizing | 0.997 | D | 0.578 | neutral | N | 0.508851495 | None | None | N |
| S/C | 0.3601 | ambiguous | 0.4227 | ambiguous | -0.266 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.589677384 | None | None | N |
| S/D | 0.6691 | likely_pathogenic | 0.6931 | pathogenic | -0.054 | Destabilizing | 0.999 | D | 0.665 | neutral | None | None | None | None | N |
| S/E | 0.7969 | likely_pathogenic | 0.7961 | pathogenic | -0.15 | Destabilizing | 0.999 | D | 0.643 | neutral | None | None | None | None | N |
| S/F | 0.4387 | ambiguous | 0.5235 | ambiguous | -0.854 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.548002332 | None | None | N |
| S/G | 0.1437 | likely_benign | 0.1613 | benign | -0.406 | Destabilizing | 0.999 | D | 0.562 | neutral | None | None | None | None | N |
| S/H | 0.6548 | likely_pathogenic | 0.6746 | pathogenic | -0.892 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| S/I | 0.5641 | likely_pathogenic | 0.5959 | pathogenic | -0.122 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/K | 0.9079 | likely_pathogenic | 0.9049 | pathogenic | -0.48 | Destabilizing | 0.999 | D | 0.661 | neutral | None | None | None | None | N |
| S/L | 0.2172 | likely_benign | 0.2573 | benign | -0.122 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| S/M | 0.3405 | ambiguous | 0.3945 | ambiguous | 0.155 | Stabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| S/N | 0.2605 | likely_benign | 0.2946 | benign | -0.232 | Destabilizing | 0.999 | D | 0.648 | neutral | None | None | None | None | N |
| S/P | 0.9458 | likely_pathogenic | 0.9346 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | N | 0.509764227 | None | None | N |
| S/Q | 0.7728 | likely_pathogenic | 0.7758 | pathogenic | -0.529 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | None | None | None | None | N |
| S/R | 0.8826 | likely_pathogenic | 0.8779 | pathogenic | -0.208 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| S/T | 0.1467 | likely_benign | 0.1735 | benign | -0.33 | Destabilizing | 0.999 | D | 0.585 | neutral | N | 0.509622063 | None | None | N |
| S/V | 0.5446 | ambiguous | 0.5828 | pathogenic | -0.15 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/W | 0.6351 | likely_pathogenic | 0.643 | pathogenic | -0.854 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| S/Y | 0.3374 | likely_benign | 0.3719 | ambiguous | -0.575 | Destabilizing | 1.0 | D | 0.749 | deleterious | D | 0.589677384 | 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.