Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3482 | 10669;10670;10671 | chr2:178757776;178757775;178757774 | chr2:179622503;179622502;179622501 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3436 | 10531;10532;10533 | chr2:178757776;178757775;178757774 | chr2:179622503;179622502;179622501 |
| 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/I | rs1553970119  |
None | None | None | None | 0.237 | None | gnomAD-4.0.0 | 2.73693E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59809E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3456 | ambiguous | None | None | -1.83 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/C | 0.9248 | likely_pathogenic | None | None | -1.445 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/D | 0.9891 | likely_pathogenic | None | None | -2.34 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/E | 0.9718 | likely_pathogenic | None | None | -2.067 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/F | 0.8355 | likely_pathogenic | None | None | -1.054 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/G | 0.7418 | likely_pathogenic | None | None | -2.416 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/H | 0.9947 | likely_pathogenic | None | None | -2.208 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/I | 0.16 | likely_benign | None | None | -0.175 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/K | 0.9825 | likely_pathogenic | None | None | -1.506 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/L | 0.6869 | likely_pathogenic | None | None | -0.175 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/M | 0.637 | likely_pathogenic | None | None | -0.323 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/N | 0.9727 | likely_pathogenic | None | None | -1.986 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/P | 0.9824 | likely_pathogenic | None | None | -0.7 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Q | 0.9685 | likely_pathogenic | None | None | -1.705 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/R | 0.9665 | likely_pathogenic | None | None | -1.575 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/S | 0.7755 | likely_pathogenic | None | None | -2.631 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/T | 0.6475 | likely_pathogenic | None | None | -2.183 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| V/W | 0.9983 | likely_pathogenic | None | None | -1.549 | Destabilizing | None | None | None | None | None | None | None | None | N |
| V/Y | 0.9877 | likely_pathogenic | None | None | -1.115 | 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.