Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2919 | 8980;8981;8982 | chr2:178769826;178769825;178769824 | chr2:179634553;179634552;179634551 |
| N2AB | 2919 | 8980;8981;8982 | chr2:178769826;178769825;178769824 | chr2:179634553;179634552;179634551 |
| N2A | 2919 | 8980;8981;8982 | chr2:178769826;178769825;178769824 | chr2:179634553;179634552;179634551 |
| N2B | 2873 | 8842;8843;8844 | chr2:178769826;178769825;178769824 | chr2:179634553;179634552;179634551 |
| Novex-1 | 2873 | 8842;8843;8844 | chr2:178769826;178769825;178769824 | chr2:179634553;179634552;179634551 |
| Novex-2 | 2873 | 8842;8843;8844 | chr2:178769826;178769825;178769824 | chr2:179634553;179634552;179634551 |
| Novex-3 | 2919 | 8980;8981;8982 | chr2:178769826;178769825;178769824 | chr2:179634553;179634552;179634551 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/E | None | None | 1.0 | N | 0.703 | 0.585 | 0.748528830317 | gnomAD-4.0.0 | 1.59046E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85652E-06 | 0 | 0 |
| V/L | rs1407181153  |
0.065 | 0.997 | N | 0.501 | 0.385 | 0.494031935134 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.83E-06 | 0 |
| V/L | rs1407181153 |
0.065 | 0.997 | N | 0.501 | 0.385 | 0.494031935134 | gnomAD-4.0.0 | 1.59047E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85652E-06 | 0 | 0 |
| V/M | rs1407181153 |
None | 1.0 | D | 0.629 | 0.386 | 0.512766428439 | gnomAD-4.0.0 | 1.59047E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02133E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.374 | ambiguous | 0.3053 | benign | -0.498 | Destabilizing | 0.999 | D | 0.502 | neutral | N | 0.503403754 | None | None | N |
| V/C | 0.8839 | likely_pathogenic | 0.8788 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| V/D | 0.6485 | likely_pathogenic | 0.5456 | ambiguous | -0.31 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| V/E | 0.4068 | ambiguous | 0.3587 | ambiguous | -0.413 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | N | 0.487047198 | None | None | N |
| V/F | 0.3176 | likely_benign | 0.2682 | benign | -0.639 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| V/G | 0.5382 | ambiguous | 0.4538 | ambiguous | -0.633 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | D | 0.550435557 | None | None | N |
| V/H | 0.7723 | likely_pathogenic | 0.7344 | pathogenic | -0.117 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| V/I | 0.0881 | likely_benign | 0.0801 | benign | -0.287 | Destabilizing | 0.998 | D | 0.45 | neutral | None | None | None | None | N |
| V/K | 0.4932 | ambiguous | 0.4369 | ambiguous | -0.521 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| V/L | 0.4073 | ambiguous | 0.3578 | ambiguous | -0.287 | Destabilizing | 0.997 | D | 0.501 | neutral | N | 0.510178058 | None | None | N |
| V/M | 0.1666 | likely_benign | 0.1446 | benign | -0.428 | Destabilizing | 1.0 | D | 0.629 | neutral | D | 0.534449865 | None | None | N |
| V/N | 0.4454 | ambiguous | 0.3754 | ambiguous | -0.327 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | None | None | None | None | N |
| V/P | 0.9896 | likely_pathogenic | 0.9834 | pathogenic | -0.323 | Destabilizing | 1.0 | D | 0.703 | prob.neutral | None | None | None | None | N |
| V/Q | 0.4178 | ambiguous | 0.3829 | ambiguous | -0.547 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/R | 0.4891 | ambiguous | 0.4514 | ambiguous | 0.011 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| V/S | 0.4444 | ambiguous | 0.3717 | ambiguous | -0.69 | Destabilizing | 1.0 | D | 0.717 | prob.delet. | None | None | None | None | N |
| V/T | 0.2776 | likely_benign | 0.2379 | benign | -0.691 | Destabilizing | 0.999 | D | 0.571 | neutral | None | None | None | None | N |
| V/W | 0.9369 | likely_pathogenic | 0.9287 | pathogenic | -0.72 | Destabilizing | 1.0 | D | 0.676 | prob.neutral | None | None | None | None | N |
| V/Y | 0.7683 | likely_pathogenic | 0.7478 | pathogenic | -0.437 | Destabilizing | 1.0 | D | 0.707 | prob.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.