Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22158 | 66697;66698;66699 | chr2:178581796;178581795;178581794 | chr2:179446523;179446522;179446521 |
| N2AB | 20517 | 61774;61775;61776 | chr2:178581796;178581795;178581794 | chr2:179446523;179446522;179446521 |
| N2A | 19590 | 58993;58994;58995 | chr2:178581796;178581795;178581794 | chr2:179446523;179446522;179446521 |
| N2B | 13093 | 39502;39503;39504 | chr2:178581796;178581795;178581794 | chr2:179446523;179446522;179446521 |
| Novex-1 | 13218 | 39877;39878;39879 | chr2:178581796;178581795;178581794 | chr2:179446523;179446522;179446521 |
| Novex-2 | 13285 | 40078;40079;40080 | chr2:178581796;178581795;178581794 | chr2:179446523;179446522;179446521 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/V | rs569333267  |
-0.249 | None | N | None | 0.482 | None | gnomAD-2.1.1 | 4.45E-06 | None | None | None | None | N | None | 7.2E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs569333267 |
-0.249 | None | N | None | 0.482 | None | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs569333267 |
-0.249 | None | N | None | 0.482 | None | 1000 genomes | None | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| G/V | rs569333267 |
-0.249 | None | N | None | 0.482 | None | gnomAD-4.0.0 | 1.9742E-05 | None | None | None | None | N | None | 7.24323E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4328 | ambiguous | 0.4487 | ambiguous | -0.868 | Destabilizing | None | N | 0.098 | neutral | N | 0.503258427 | None | None | N |
| G/C | 0.8154 | likely_pathogenic | 0.8597 | pathogenic | -1.203 | Destabilizing | None | None | None | None | D | 0.531784389 | None | None | N |
| G/D | 0.9448 | likely_pathogenic | 0.9678 | pathogenic | -1.958 | Destabilizing | None | None | None | None | N | 0.511051397 | None | None | N |
| G/E | 0.9577 | likely_pathogenic | 0.9723 | pathogenic | -1.99 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/F | 0.9598 | likely_pathogenic | 0.9683 | pathogenic | -1.186 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/H | 0.9786 | likely_pathogenic | 0.9866 | pathogenic | -1.426 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/I | 0.9513 | likely_pathogenic | 0.9662 | pathogenic | -0.457 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/K | 0.9905 | likely_pathogenic | 0.9941 | pathogenic | -1.292 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/L | 0.924 | likely_pathogenic | 0.9472 | pathogenic | -0.457 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/M | 0.954 | likely_pathogenic | 0.9648 | pathogenic | -0.462 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/N | 0.9452 | likely_pathogenic | 0.9628 | pathogenic | -1.132 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/P | 0.9927 | likely_pathogenic | 0.9945 | pathogenic | -0.556 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Q | 0.9662 | likely_pathogenic | 0.9759 | pathogenic | -1.341 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/R | 0.9763 | likely_pathogenic | 0.985 | pathogenic | -1.0 | Destabilizing | None | None | None | None | N | 0.512666176 | None | None | N |
| G/S | 0.3552 | ambiguous | 0.4111 | ambiguous | -1.335 | Destabilizing | None | None | None | None | N | 0.473576695 | None | None | N |
| G/T | 0.8384 | likely_pathogenic | 0.88 | pathogenic | -1.303 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/V | 0.9144 | likely_pathogenic | 0.9365 | pathogenic | -0.556 | Destabilizing | None | None | None | None | N | 0.519756521 | None | None | N |
| G/W | 0.9582 | likely_pathogenic | 0.9729 | pathogenic | -1.565 | Destabilizing | None | None | None | None | None | None | None | None | N |
| G/Y | 0.9589 | likely_pathogenic | 0.9703 | pathogenic | -1.148 | Destabilizing | None | None | None | None | 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.