Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3742 | 11449;11450;11451 | chr2:178756252;178756251;178756250 | chr2:179620979;179620978;179620977 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3571 | 10936;10937;10938 | chr2:178756252;178756251;178756250 | chr2:179620979;179620978;179620977 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | None | None | None | None | None | 0.087 | None | gnomAD-4.0.0 | 1.20046E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31266E-06 | 0 | 0 |
| T/I | None | None | None | None | None | 0.069 | None | gnomAD-4.0.0 | 6.84892E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.00395E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0867 | likely_benign | None | None | -0.78 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/C | 0.4386 | ambiguous | None | None | -0.441 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/D | 0.3876 | ambiguous | None | None | 0.003 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/E | 0.2108 | likely_benign | None | None | -0.01 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/F | 0.2248 | likely_benign | None | None | -0.932 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/G | 0.3008 | likely_benign | None | None | -1.018 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/H | 0.232 | likely_benign | None | None | -1.284 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/I | 0.1395 | likely_benign | None | None | -0.244 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/K | 0.1301 | likely_benign | None | None | -0.64 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/L | 0.1135 | likely_benign | None | None | -0.244 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/M | 0.0868 | likely_benign | None | None | 0.023 | Stabilizing | None | None | None | None | None | None | None | None | I |
| T/N | 0.1247 | likely_benign | None | None | -0.546 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/P | 0.2304 | likely_benign | None | None | -0.39 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Q | 0.1689 | likely_benign | None | None | -0.712 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/R | 0.1022 | likely_benign | None | None | -0.401 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/S | 0.1257 | likely_benign | None | None | -0.842 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/V | 0.1382 | likely_benign | None | None | -0.39 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/W | 0.5467 | ambiguous | None | None | -0.862 | Destabilizing | None | None | None | None | None | None | None | None | I |
| T/Y | 0.2597 | likely_benign | None | None | -0.628 | Destabilizing | None | None | None | None | None | None | None | None | I |
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.