Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3491 | 10696;10697;10698 | chr2:178757749;178757748;178757747 | chr2:179622476;179622475;179622474 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | 3445 | 10558;10559;10560 | chr2:178757749;178757748;178757747 | chr2:179622476;179622475;179622474 |
| 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/V | None | None | None | None | None | 0.101 | None | gnomAD-4.0.0 | 1.20033E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.31252E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.4544 | ambiguous | None | None | -0.497 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/C | 0.7233 | likely_pathogenic | None | None | -0.721 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/D | 0.6402 | likely_pathogenic | None | None | -0.417 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/E | 0.5065 | ambiguous | None | None | -0.517 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/F | 0.1271 | likely_benign | None | None | -0.634 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/G | 0.7624 | likely_pathogenic | None | None | -0.612 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/H | 0.3699 | ambiguous | None | None | 0.08 | Stabilizing | None | None | None | None | None | None | None | None | I |
| I/K | 0.2807 | likely_benign | None | None | -0.39 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/L | 0.1276 | likely_benign | None | None | -0.321 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/M | 0.1209 | likely_benign | None | None | -0.536 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/N | 0.1893 | likely_benign | None | None | -0.236 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/P | 0.9058 | likely_pathogenic | None | None | -0.35 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/Q | 0.3423 | ambiguous | None | None | -0.458 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/R | 0.2306 | likely_benign | None | None | 0.158 | Stabilizing | None | None | None | None | None | None | None | None | I |
| I/S | 0.2723 | likely_benign | None | None | -0.596 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/T | 0.2815 | likely_benign | None | None | -0.597 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/V | 0.1143 | likely_benign | None | None | -0.35 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/W | 0.7151 | likely_pathogenic | None | None | -0.653 | Destabilizing | None | None | None | None | None | None | None | None | I |
| I/Y | 0.3719 | ambiguous | None | None | -0.414 | 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.