Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29099 | 87520;87521;87522 | chr2:178558059;178558058;178558057 | chr2:179422786;179422785;179422784 |
| N2AB | 27458 | 82597;82598;82599 | chr2:178558059;178558058;178558057 | chr2:179422786;179422785;179422784 |
| N2A | 26531 | 79816;79817;79818 | chr2:178558059;178558058;178558057 | chr2:179422786;179422785;179422784 |
| N2B | 20034 | 60325;60326;60327 | chr2:178558059;178558058;178558057 | chr2:179422786;179422785;179422784 |
| Novex-1 | 20159 | 60700;60701;60702 | chr2:178558059;178558058;178558057 | chr2:179422786;179422785;179422784 |
| Novex-2 | 20226 | 60901;60902;60903 | chr2:178558059;178558058;178558057 | chr2:179422786;179422785;179422784 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/H | rs1702188793  |
None | 0.975 | N | 0.452 | 0.229 | 0.253726318573 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| N/K | rs528257030 |
-0.044 | 0.425 | N | 0.322 | 0.111 | 0.144782658237 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| N/K | rs528257030 |
-0.044 | 0.425 | N | 0.322 | 0.111 | 0.144782658237 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| N/K | rs528257030 |
-0.044 | 0.425 | N | 0.322 | 0.111 | 0.144782658237 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 8E-04 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| N/K | rs528257030 |
-0.044 | 0.425 | N | 0.322 | 0.111 | 0.144782658237 | gnomAD-4.0.0 | 6.56607E-06 | None | None | None | None | N | None | 2.40547E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.2232 | likely_benign | 0.1779 | benign | -0.651 | Destabilizing | 0.176 | N | 0.459 | neutral | None | None | None | None | N |
| N/C | 0.1964 | likely_benign | 0.1568 | benign | -0.104 | Destabilizing | 0.995 | D | 0.579 | neutral | None | None | None | None | N |
| N/D | 0.2222 | likely_benign | 0.1785 | benign | -1.353 | Destabilizing | 0.425 | N | 0.35 | neutral | N | 0.473683167 | None | None | N |
| N/E | 0.4008 | ambiguous | 0.3321 | benign | -1.25 | Destabilizing | 0.495 | N | 0.332 | neutral | None | None | None | None | N |
| N/F | 0.3663 | ambiguous | 0.3125 | benign | -0.518 | Destabilizing | 0.981 | D | 0.603 | neutral | None | None | None | None | N |
| N/G | 0.3063 | likely_benign | 0.2368 | benign | -0.98 | Destabilizing | 0.001 | N | 0.106 | neutral | None | None | None | None | N |
| N/H | 0.0961 | likely_benign | 0.0808 | benign | -0.879 | Destabilizing | 0.975 | D | 0.452 | neutral | N | 0.463679604 | None | None | N |
| N/I | 0.1611 | likely_benign | 0.1395 | benign | 0.182 | Stabilizing | 0.927 | D | 0.579 | neutral | N | 0.510507971 | None | None | N |
| N/K | 0.2267 | likely_benign | 0.1801 | benign | -0.329 | Destabilizing | 0.425 | N | 0.322 | neutral | N | 0.462119379 | None | None | N |
| N/L | 0.2171 | likely_benign | 0.187 | benign | 0.182 | Stabilizing | 0.704 | D | 0.564 | neutral | None | None | None | None | N |
| N/M | 0.2346 | likely_benign | 0.2106 | benign | 0.647 | Stabilizing | 0.981 | D | 0.543 | neutral | None | None | None | None | N |
| N/P | 0.9414 | likely_pathogenic | 0.9055 | pathogenic | -0.066 | Destabilizing | 0.828 | D | 0.531 | neutral | None | None | None | None | N |
| N/Q | 0.2704 | likely_benign | 0.225 | benign | -1.093 | Destabilizing | 0.828 | D | 0.393 | neutral | None | None | None | None | N |
| N/R | 0.2964 | likely_benign | 0.2217 | benign | -0.347 | Destabilizing | 0.704 | D | 0.373 | neutral | None | None | None | None | N |
| N/S | 0.1142 | likely_benign | 0.0947 | benign | -0.954 | Destabilizing | 0.003 | N | 0.135 | neutral | N | 0.389296488 | None | None | N |
| N/T | 0.1087 | likely_benign | 0.0932 | benign | -0.681 | Destabilizing | 0.27 | N | 0.348 | neutral | N | 0.458078996 | None | None | N |
| N/V | 0.1773 | likely_benign | 0.1526 | benign | -0.066 | Destabilizing | 0.704 | D | 0.558 | neutral | None | None | None | None | N |
| N/W | 0.7084 | likely_pathogenic | 0.6159 | pathogenic | -0.385 | Destabilizing | 0.995 | D | 0.615 | neutral | None | None | None | None | N |
| N/Y | 0.1085 | likely_benign | 0.0897 | benign | -0.088 | Destabilizing | 0.975 | D | 0.557 | neutral | N | 0.482612081 | 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.