Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2450 | 7573;7574;7575 | chr2:178773708;178773707;178773706 | chr2:179638435;179638434;179638433 |
| N2AB | 2450 | 7573;7574;7575 | chr2:178773708;178773707;178773706 | chr2:179638435;179638434;179638433 |
| N2A | 2450 | 7573;7574;7575 | chr2:178773708;178773707;178773706 | chr2:179638435;179638434;179638433 |
| N2B | 2404 | 7435;7436;7437 | chr2:178773708;178773707;178773706 | chr2:179638435;179638434;179638433 |
| Novex-1 | 2404 | 7435;7436;7437 | chr2:178773708;178773707;178773706 | chr2:179638435;179638434;179638433 |
| Novex-2 | 2404 | 7435;7436;7437 | chr2:178773708;178773707;178773706 | chr2:179638435;179638434;179638433 |
| Novex-3 | 2450 | 7573;7574;7575 | chr2:178773708;178773707;178773706 | chr2:179638435;179638434;179638433 |
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/R | rs749427768  |
-0.063 | 0.968 | D | 0.737 | 0.381 | 0.523495912915 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/R | rs749427768 |
-0.063 | 0.968 | D | 0.737 | 0.381 | 0.523495912915 | gnomAD-4.0.0 | 1.59072E-06 | None | None | None | None | N | None | 0 | 2.28707E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.1174 | likely_benign | 0.1184 | benign | -0.971 | Destabilizing | 0.811 | D | 0.605 | neutral | D | 0.616850831 | None | None | N |
| P/C | 0.633 | likely_pathogenic | 0.6312 | pathogenic | -0.66 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | None | None | N |
| P/D | 0.5533 | ambiguous | 0.5517 | ambiguous | -0.804 | Destabilizing | 0.851 | D | 0.634 | neutral | None | None | None | None | N |
| P/E | 0.3765 | ambiguous | 0.3792 | ambiguous | -0.9 | Destabilizing | 0.261 | N | 0.292 | neutral | None | None | None | None | N |
| P/F | 0.6731 | likely_pathogenic | 0.6627 | pathogenic | -1.041 | Destabilizing | 0.988 | D | 0.743 | deleterious | None | None | None | None | N |
| P/G | 0.4053 | ambiguous | 0.398 | ambiguous | -1.163 | Destabilizing | 0.034 | N | 0.401 | neutral | None | None | None | None | N |
| P/H | 0.2412 | likely_benign | 0.2442 | benign | -0.739 | Destabilizing | 0.125 | N | 0.445 | neutral | D | 0.55532066 | None | None | N |
| P/I | 0.5478 | ambiguous | 0.5442 | ambiguous | -0.594 | Destabilizing | 0.996 | D | 0.753 | deleterious | None | None | None | None | N |
| P/K | 0.3539 | ambiguous | 0.3546 | ambiguous | -0.828 | Destabilizing | 0.919 | D | 0.615 | neutral | None | None | None | None | N |
| P/L | 0.2115 | likely_benign | 0.2115 | benign | -0.594 | Destabilizing | 0.984 | D | 0.697 | prob.neutral | D | 0.585727935 | None | None | N |
| P/M | 0.5031 | ambiguous | 0.4985 | ambiguous | -0.404 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| P/N | 0.4163 | ambiguous | 0.416 | ambiguous | -0.506 | Destabilizing | 0.976 | D | 0.675 | prob.neutral | None | None | None | None | N |
| P/Q | 0.2161 | likely_benign | 0.2191 | benign | -0.788 | Destabilizing | 0.976 | D | 0.699 | prob.neutral | None | None | None | None | N |
| P/R | 0.2237 | likely_benign | 0.2247 | benign | -0.229 | Destabilizing | 0.968 | D | 0.737 | prob.delet. | D | 0.552898589 | None | None | N |
| P/S | 0.1605 | likely_benign | 0.1596 | benign | -0.889 | Destabilizing | 0.896 | D | 0.631 | neutral | D | 0.577557694 | None | None | N |
| P/T | 0.1631 | likely_benign | 0.1661 | benign | -0.891 | Destabilizing | 0.984 | D | 0.631 | neutral | D | 0.618036922 | None | None | N |
| P/V | 0.3827 | ambiguous | 0.3812 | ambiguous | -0.684 | Destabilizing | 0.988 | D | 0.679 | prob.neutral | None | None | None | None | N |
| P/W | 0.8172 | likely_pathogenic | 0.81 | pathogenic | -1.128 | Destabilizing | 0.999 | D | 0.717 | prob.delet. | None | None | None | None | N |
| P/Y | 0.5813 | likely_pathogenic | 0.5768 | pathogenic | -0.853 | Destabilizing | 0.976 | D | 0.753 | 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.