Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8008 | 24247;24248;24249 | chr2:178719368;178719367;178719366 | chr2:179584095;179584094;179584093 |
| N2AB | 7691 | 23296;23297;23298 | chr2:178719368;178719367;178719366 | chr2:179584095;179584094;179584093 |
| N2A | 6764 | 20515;20516;20517 | chr2:178719368;178719367;178719366 | chr2:179584095;179584094;179584093 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs767654858  |
-2.434 | 0.997 | D | 0.83 | 0.774 | 0.857379640909 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.15895E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | rs767654858 |
-2.434 | 0.997 | D | 0.83 | 0.774 | 0.857379640909 | gnomAD-4.0.0 | 7.95631E-06 | None | None | None | None | N | None | 0 | 9.1462E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02425E-05 |
| V/I | rs775395125 |
-0.482 | 0.02 | N | 0.186 | 0.214 | 0.443285836454 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 1.15902E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs775395125 |
-0.482 | 0.02 | N | 0.186 | 0.214 | 0.443285836454 | gnomAD-4.0.0 | 7.95631E-06 | None | None | None | None | N | None | 0 | 9.1462E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02407E-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 | 0.6021 | likely_pathogenic | 0.7002 | pathogenic | -2.128 | Highly Destabilizing | 0.863 | D | 0.671 | neutral | N | 0.500552842 | None | None | N |
| V/C | 0.9263 | likely_pathogenic | 0.9485 | pathogenic | -1.659 | Destabilizing | 0.999 | D | 0.755 | deleterious | None | None | None | None | N |
| V/D | 0.9846 | likely_pathogenic | 0.9909 | pathogenic | -2.445 | Highly Destabilizing | 0.997 | D | 0.83 | deleterious | D | 0.617803994 | None | None | N |
| V/E | 0.9604 | likely_pathogenic | 0.9751 | pathogenic | -2.213 | Highly Destabilizing | 0.998 | D | 0.805 | deleterious | None | None | None | None | N |
| V/F | 0.358 | ambiguous | 0.4019 | ambiguous | -1.214 | Destabilizing | 0.982 | D | 0.788 | deleterious | D | 0.566152718 | None | None | N |
| V/G | 0.78 | likely_pathogenic | 0.8451 | pathogenic | -2.685 | Highly Destabilizing | 0.997 | D | 0.831 | deleterious | D | 0.608517408 | None | None | N |
| V/H | 0.9799 | likely_pathogenic | 0.9871 | pathogenic | -2.357 | Highly Destabilizing | 0.999 | D | 0.814 | deleterious | None | None | None | None | N |
| V/I | 0.0819 | likely_benign | 0.0833 | benign | -0.567 | Destabilizing | 0.02 | N | 0.186 | neutral | N | 0.518597098 | None | None | N |
| V/K | 0.9732 | likely_pathogenic | 0.9814 | pathogenic | -1.638 | Destabilizing | 0.993 | D | 0.808 | deleterious | None | None | None | None | N |
| V/L | 0.3349 | likely_benign | 0.3837 | ambiguous | -0.567 | Destabilizing | 0.76 | D | 0.406 | neutral | D | 0.559339581 | None | None | N |
| V/M | 0.3759 | ambiguous | 0.4421 | ambiguous | -0.673 | Destabilizing | 0.986 | D | 0.726 | prob.delet. | None | None | None | None | N |
| V/N | 0.9505 | likely_pathogenic | 0.9703 | pathogenic | -1.967 | Destabilizing | 0.998 | D | 0.824 | deleterious | None | None | None | None | N |
| V/P | 0.9688 | likely_pathogenic | 0.9776 | pathogenic | -1.061 | Destabilizing | 0.998 | D | 0.787 | deleterious | None | None | None | None | N |
| V/Q | 0.9512 | likely_pathogenic | 0.9687 | pathogenic | -1.782 | Destabilizing | 0.998 | D | 0.802 | deleterious | None | None | None | None | N |
| V/R | 0.9507 | likely_pathogenic | 0.9654 | pathogenic | -1.527 | Destabilizing | 0.998 | D | 0.829 | deleterious | None | None | None | None | N |
| V/S | 0.8519 | likely_pathogenic | 0.9035 | pathogenic | -2.653 | Highly Destabilizing | 0.993 | D | 0.793 | deleterious | None | None | None | None | N |
| V/T | 0.7478 | likely_pathogenic | 0.8153 | pathogenic | -2.27 | Highly Destabilizing | 0.953 | D | 0.672 | neutral | None | None | None | None | N |
| V/W | 0.9731 | likely_pathogenic | 0.9809 | pathogenic | -1.688 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| V/Y | 0.8768 | likely_pathogenic | 0.9079 | pathogenic | -1.328 | Destabilizing | 0.998 | D | 0.768 | 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.