Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14596 | 44011;44012;44013 | chr2:178631262;178631261;178631260 | chr2:179495989;179495988;179495987 |
| N2AB | 12955 | 39088;39089;39090 | chr2:178631262;178631261;178631260 | chr2:179495989;179495988;179495987 |
| N2A | 12028 | 36307;36308;36309 | chr2:178631262;178631261;178631260 | chr2:179495989;179495988;179495987 |
| N2B | 5531 | 16816;16817;16818 | chr2:178631262;178631261;178631260 | chr2:179495989;179495988;179495987 |
| Novex-1 | 5656 | 17191;17192;17193 | chr2:178631262;178631261;178631260 | chr2:179495989;179495988;179495987 |
| Novex-2 | 5723 | 17392;17393;17394 | chr2:178631262;178631261;178631260 | chr2:179495989;179495988;179495987 |
| 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 | rs770795900  |
-0.142 | 0.058 | N | 0.217 | 0.23 | 0.19670166235 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 0 | 0 |
| T/A | rs770795900 |
-0.142 | 0.058 | N | 0.217 | 0.23 | 0.19670166235 | gnomAD-4.0.0 | 4.79126E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.87489E-05 | 3.03251E-05 |
| T/I | None | None | 0.942 | D | 0.433 | 0.417 | 0.573751148353 | gnomAD-4.0.0 | 2.40068E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62504E-06 | 0 | 0 |
| T/S | None | None | 0.014 | N | 0.27 | 0.168 | 0.221734844693 | gnomAD-4.0.0 | 1.20034E-06 | None | None | None | None | N | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1044 | likely_benign | 0.104 | benign | -0.381 | Destabilizing | 0.058 | N | 0.217 | neutral | N | 0.504396575 | None | None | N |
| T/C | 0.5638 | ambiguous | 0.54 | ambiguous | -0.432 | Destabilizing | 0.994 | D | 0.434 | neutral | None | None | None | None | N |
| T/D | 0.5966 | likely_pathogenic | 0.6212 | pathogenic | 0.263 | Stabilizing | 0.956 | D | 0.389 | neutral | None | None | None | None | N |
| T/E | 0.3599 | ambiguous | 0.3794 | ambiguous | 0.21 | Stabilizing | 0.915 | D | 0.385 | neutral | None | None | None | None | N |
| T/F | 0.3697 | ambiguous | 0.3671 | ambiguous | -0.897 | Destabilizing | 0.978 | D | 0.524 | neutral | None | None | None | None | N |
| T/G | 0.435 | ambiguous | 0.4371 | ambiguous | -0.512 | Destabilizing | 0.754 | D | 0.396 | neutral | None | None | None | None | N |
| T/H | 0.2409 | likely_benign | 0.2654 | benign | -0.646 | Destabilizing | 0.994 | D | 0.483 | neutral | None | None | None | None | N |
| T/I | 0.1943 | likely_benign | 0.1918 | benign | -0.154 | Destabilizing | 0.942 | D | 0.433 | neutral | D | 0.581825729 | None | None | N |
| T/K | 0.1172 | likely_benign | 0.146 | benign | -0.305 | Destabilizing | 0.915 | D | 0.381 | neutral | None | None | None | None | N |
| T/L | 0.1506 | likely_benign | 0.1539 | benign | -0.154 | Destabilizing | 0.86 | D | 0.402 | neutral | None | None | None | None | N |
| T/M | 0.1269 | likely_benign | 0.122 | benign | -0.255 | Destabilizing | 0.998 | D | 0.422 | neutral | None | None | None | None | N |
| T/N | 0.2233 | likely_benign | 0.2319 | benign | -0.22 | Destabilizing | 0.89 | D | 0.413 | neutral | D | 0.539645421 | None | None | N |
| T/P | 0.2843 | likely_benign | 0.2959 | benign | -0.201 | Destabilizing | 0.971 | D | 0.432 | neutral | D | 0.611718338 | None | None | N |
| T/Q | 0.2274 | likely_benign | 0.251 | benign | -0.354 | Destabilizing | 0.956 | D | 0.425 | neutral | None | None | None | None | N |
| T/R | 0.0966 | likely_benign | 0.1138 | benign | -0.036 | Destabilizing | 0.956 | D | 0.431 | neutral | None | None | None | None | N |
| T/S | 0.1566 | likely_benign | 0.1597 | benign | -0.426 | Destabilizing | 0.014 | N | 0.27 | neutral | N | 0.511931691 | None | None | N |
| T/V | 0.1903 | likely_benign | 0.1732 | benign | -0.201 | Destabilizing | 0.86 | D | 0.398 | neutral | None | None | None | None | N |
| T/W | 0.7076 | likely_pathogenic | 0.7113 | pathogenic | -0.948 | Destabilizing | 0.998 | D | 0.569 | neutral | None | None | None | None | N |
| T/Y | 0.4576 | ambiguous | 0.4581 | ambiguous | -0.634 | Destabilizing | 0.993 | D | 0.52 | neutral | 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.