Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3685 | 11278;11279;11280 | chr2:178756423;178756422;178756421 | chr2:179621150;179621149;179621148 |
| 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 | 3514 | 10765;10766;10767 | chr2:178756423;178756422;178756421 | chr2:179621150;179621149;179621148 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/G | None | None | None | None | None | 0.082 | None | gnomAD-4.0.0 | 2.73687E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59778E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.1948 | likely_benign | None | None | -0.19 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/C | 0.641 | likely_pathogenic | None | None | 0.009 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/E | 0.1662 | likely_benign | None | None | -0.231 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/F | 0.6683 | likely_pathogenic | None | None | -0.056 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/G | 0.1236 | likely_benign | None | None | -0.404 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/H | 0.2895 | likely_benign | None | None | 0.089 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/I | 0.4886 | ambiguous | None | None | 0.328 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/K | 0.302 | likely_benign | None | None | 0.272 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/L | 0.4698 | ambiguous | None | None | 0.328 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/M | 0.6778 | likely_pathogenic | None | None | 0.398 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/N | 0.107 | likely_benign | None | None | -0.026 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/P | 0.6158 | likely_pathogenic | None | None | 0.178 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/Q | 0.3414 | ambiguous | None | None | 0.033 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/R | 0.3403 | ambiguous | None | None | 0.463 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/S | 0.1362 | likely_benign | None | None | -0.15 | Destabilizing | None | None | None | None | None | None | None | None | I |
| D/T | 0.269 | likely_benign | None | None | 0.019 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/V | 0.2972 | likely_benign | None | None | 0.178 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/W | 0.8575 | likely_pathogenic | None | None | 0.072 | Stabilizing | None | None | None | None | None | None | None | None | I |
| D/Y | 0.2549 | likely_benign | None | None | 0.18 | Stabilizing | 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.