Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3505 | 10738;10739;10740 | chr2:178757707;178757706;178757705 | chr2:179622434;179622433;179622432 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3459 | 10600;10601;10602 | chr2:178757707;178757706;178757705 | chr2:179622434;179622433;179622432 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/M | rs763190523  |
-1.514 | None | None | None | 0.115 | None | gnomAD-2.1.1 | 1.07E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.34E-05 | 0 |
| I/M | rs763190523 |
-1.514 | None | None | None | 0.115 | None | gnomAD-4.0.0 | 2.3947E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.14818E-05 | 0 | 0 |
| I/V | rs1416675035 |
None | None | None | None | 0.15 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.79386E-04 |
| I/V | rs1416675035 |
None | None | None | None | 0.15 | None | gnomAD-4.0.0 | 2.03002E-06 | None | None | None | None | N | None | 1.74734E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.40321E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.8788 | likely_pathogenic | None | None | -2.213 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/C | 0.9398 | likely_pathogenic | None | None | -1.274 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/D | 0.99 | likely_pathogenic | None | None | -2.957 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/E | 0.9767 | likely_pathogenic | None | None | -2.717 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/F | 0.4589 | ambiguous | None | None | -1.514 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/G | 0.9788 | likely_pathogenic | None | None | -2.691 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/H | 0.9357 | likely_pathogenic | None | None | -2.183 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/K | 0.9322 | likely_pathogenic | None | None | -1.788 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/L | 0.1604 | likely_benign | None | None | -0.813 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/M | 0.2824 | likely_benign | None | None | -0.624 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/N | 0.8986 | likely_pathogenic | None | None | -2.291 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/P | 0.9628 | likely_pathogenic | None | None | -1.266 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Q | 0.9206 | likely_pathogenic | None | None | -2.138 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/R | 0.8934 | likely_pathogenic | None | None | -1.593 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/S | 0.8842 | likely_pathogenic | None | None | -2.809 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/T | 0.8606 | likely_pathogenic | None | None | -2.434 | Highly Destabilizing | None | None | None | None | None | None | None | None | N |
| I/V | 0.1909 | likely_benign | None | None | -1.266 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/W | 0.9772 | likely_pathogenic | None | None | -1.923 | Destabilizing | None | None | None | None | None | None | None | None | N |
| I/Y | 0.8961 | likely_pathogenic | None | None | -1.556 | 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.