Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8612 | 26059;26060;26061 | chr2:178715580;178715579;178715578 | chr2:179580307;179580306;179580305 |
| N2AB | 8295 | 25108;25109;25110 | chr2:178715580;178715579;178715578 | chr2:179580307;179580306;179580305 |
| N2A | 7368 | 22327;22328;22329 | chr2:178715580;178715579;178715578 | chr2:179580307;179580306;179580305 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/F | rs755695660  |
-1.757 | 0.97 | N | 0.605 | 0.2 | 0.592743537544 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/F | rs755695660 |
-1.757 | 0.97 | N | 0.605 | 0.2 | 0.592743537544 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/F | rs755695660 |
-1.757 | 0.97 | N | 0.605 | 0.2 | 0.592743537544 | gnomAD-4.0.0 | 1.85944E-06 | None | None | None | None | N | None | 0 | 3.33478E-05 | None | 0 | 0 | None | 0 | 0 | 8.47725E-07 | 0 | 0 |
| L/R | rs1345942434 |
None | 0.999 | N | 0.618 | 0.5 | 0.829248476454 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| L/R | rs1345942434 |
None | 0.999 | N | 0.618 | 0.5 | 0.829248476454 | gnomAD-4.0.0 | 6.58155E-06 | None | None | None | None | N | None | 2.41674E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.3622 | ambiguous | 0.3947 | ambiguous | -2.463 | Highly Destabilizing | 0.019 | N | 0.304 | neutral | None | None | None | None | N |
| L/C | 0.5909 | likely_pathogenic | 0.6126 | pathogenic | -2.481 | Highly Destabilizing | 0.999 | D | 0.577 | neutral | None | None | None | None | N |
| L/D | 0.9685 | likely_pathogenic | 0.9723 | pathogenic | -3.427 | Highly Destabilizing | 0.999 | D | 0.642 | neutral | None | None | None | None | N |
| L/E | 0.9022 | likely_pathogenic | 0.9136 | pathogenic | -3.323 | Highly Destabilizing | 0.997 | D | 0.596 | neutral | None | None | None | None | N |
| L/F | 0.446 | ambiguous | 0.4632 | ambiguous | -1.683 | Destabilizing | 0.97 | D | 0.605 | neutral | N | 0.488227678 | None | None | N |
| L/G | 0.7777 | likely_pathogenic | 0.8016 | pathogenic | -2.874 | Highly Destabilizing | 0.996 | D | 0.537 | neutral | None | None | None | None | N |
| L/H | 0.7702 | likely_pathogenic | 0.7813 | pathogenic | -2.021 | Highly Destabilizing | 0.997 | D | 0.592 | neutral | N | 0.518195218 | None | None | N |
| L/I | 0.1105 | likely_benign | 0.1198 | benign | -1.313 | Destabilizing | 0.065 | N | 0.494 | neutral | N | 0.461289872 | None | None | N |
| L/K | 0.8909 | likely_pathogenic | 0.9018 | pathogenic | -2.037 | Highly Destabilizing | 0.932 | D | 0.573 | neutral | None | None | None | None | N |
| L/M | 0.1832 | likely_benign | 0.1951 | benign | -1.413 | Destabilizing | 0.928 | D | 0.569 | neutral | None | None | None | None | N |
| L/N | 0.745 | likely_pathogenic | 0.7701 | pathogenic | -2.321 | Highly Destabilizing | 0.999 | D | 0.637 | neutral | None | None | None | None | N |
| L/P | 0.6488 | likely_pathogenic | 0.6254 | pathogenic | -1.675 | Destabilizing | 1.0 | D | 0.635 | neutral | N | 0.496946815 | None | None | N |
| L/Q | 0.669 | likely_pathogenic | 0.6962 | pathogenic | -2.432 | Highly Destabilizing | 0.999 | D | 0.616 | neutral | None | None | None | None | N |
| L/R | 0.7792 | likely_pathogenic | 0.7924 | pathogenic | -1.439 | Destabilizing | 0.999 | D | 0.618 | neutral | N | 0.491697172 | None | None | N |
| L/S | 0.5477 | ambiguous | 0.5732 | pathogenic | -2.89 | Highly Destabilizing | 0.948 | D | 0.447 | neutral | None | None | None | None | N |
| L/T | 0.3627 | ambiguous | 0.3852 | ambiguous | -2.662 | Highly Destabilizing | 0.057 | N | 0.347 | neutral | None | None | None | None | N |
| L/V | 0.098 | likely_benign | 0.1074 | benign | -1.675 | Destabilizing | 0.006 | N | 0.225 | neutral | N | 0.43481256 | None | None | N |
| L/W | 0.8113 | likely_pathogenic | 0.8199 | pathogenic | -1.925 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | N |
| L/Y | 0.8205 | likely_pathogenic | 0.8291 | pathogenic | -1.712 | Destabilizing | 0.938 | D | 0.637 | 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.