Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3524 | 10795;10796;10797 | chr2:178757650;178757649;178757648 | chr2:179622377;179622376;179622375 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3478 | 10657;10658;10659 | chr2:178757650;178757649;178757648 | chr2:179622377;179622376;179622375 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs1049058784  |
None | None | None | None | 0.119 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| M/L | None | None | None | None | None | 0.1 | None | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 6.33473E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.927 | likely_pathogenic | None | None | -0.642 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/C | 0.9337 | likely_pathogenic | None | None | -1.812 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/D | 0.9987 | likely_pathogenic | None | None | -1.564 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/E | 0.9883 | likely_pathogenic | None | None | -1.313 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/F | 0.7054 | likely_pathogenic | None | None | 0.24 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/G | 0.9784 | likely_pathogenic | None | None | -1.079 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/H | 0.9811 | likely_pathogenic | None | None | -1.363 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/I | 0.8456 | likely_pathogenic | None | None | 0.621 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/K | 0.9376 | likely_pathogenic | None | None | -0.449 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/L | 0.1908 | likely_benign | None | None | 0.621 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/N | 0.9875 | likely_pathogenic | None | None | -1.132 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/P | 0.9981 | likely_pathogenic | None | None | 0.215 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/Q | 0.9129 | likely_pathogenic | None | None | -0.646 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/R | 0.95 | likely_pathogenic | None | None | -1.123 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/S | 0.973 | likely_pathogenic | None | None | -1.317 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/T | 0.9374 | likely_pathogenic | None | None | -0.934 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/V | 0.4673 | ambiguous | None | None | 0.215 | Stabilizing | None | None | None | None | None | None | None | None | N |
| M/W | 0.9808 | likely_pathogenic | None | None | -0.211 | Destabilizing | None | None | None | None | None | None | None | None | N |
| M/Y | 0.9621 | likely_pathogenic | None | None | -0.015 | 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.