Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7647 | 23164;23165;23166 | chr2:178721080;178721079;178721078 | chr2:179585807;179585806;179585805 |
| N2AB | 7330 | 22213;22214;22215 | chr2:178721080;178721079;178721078 | chr2:179585807;179585806;179585805 |
| N2A | 6403 | 19432;19433;19434 | chr2:178721080;178721079;178721078 | chr2:179585807;179585806;179585805 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/I | None | None | 0.655 | N | 0.439 | 0.245 | 0.37953744168 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| S/R | rs544355195  |
-0.096 | 0.408 | N | 0.393 | 0.214 | 0.0666544352282 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| S/R | rs544355195 |
-0.096 | 0.408 | N | 0.393 | 0.214 | 0.0666544352282 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 6.20861E-04 | 0 |
| S/R | rs544355195 |
-0.096 | 0.408 | N | 0.393 | 0.214 | 0.0666544352282 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/R | rs544355195 |
-0.096 | 0.408 | N | 0.393 | 0.214 | 0.0666544352282 | gnomAD-4.0.0 | 3.09964E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 5.49402E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0732 | likely_benign | 0.0808 | benign | -0.566 | Destabilizing | 0.061 | N | 0.242 | neutral | None | None | None | None | N |
| S/C | 0.0943 | likely_benign | 0.1078 | benign | -0.365 | Destabilizing | 0.978 | D | 0.369 | neutral | N | 0.502550179 | None | None | N |
| S/D | 0.1707 | likely_benign | 0.2018 | benign | 0.286 | Stabilizing | 0.129 | N | 0.212 | neutral | None | None | None | None | N |
| S/E | 0.2176 | likely_benign | 0.2954 | benign | 0.234 | Stabilizing | 0.129 | N | 0.242 | neutral | None | None | None | None | N |
| S/F | 0.144 | likely_benign | 0.1971 | benign | -0.947 | Destabilizing | 0.836 | D | 0.403 | neutral | None | None | None | None | N |
| S/G | 0.0895 | likely_benign | 0.0947 | benign | -0.745 | Destabilizing | 0.001 | N | 0.165 | neutral | N | 0.46358639 | None | None | N |
| S/H | 0.1327 | likely_benign | 0.1541 | benign | -1.158 | Destabilizing | 0.005 | N | 0.269 | neutral | None | None | None | None | N |
| S/I | 0.0884 | likely_benign | 0.1032 | benign | -0.213 | Destabilizing | 0.655 | D | 0.439 | neutral | N | 0.449945089 | None | None | N |
| S/K | 0.2167 | likely_benign | 0.2938 | benign | -0.56 | Destabilizing | 0.129 | N | 0.199 | neutral | None | None | None | None | N |
| S/L | 0.0921 | likely_benign | 0.1098 | benign | -0.213 | Destabilizing | 0.264 | N | 0.375 | neutral | None | None | None | None | N |
| S/M | 0.1327 | likely_benign | 0.1474 | benign | -0.051 | Destabilizing | 0.836 | D | 0.368 | neutral | None | None | None | None | N |
| S/N | 0.0761 | likely_benign | 0.0728 | benign | -0.355 | Destabilizing | 0.001 | N | 0.164 | neutral | N | 0.430204535 | None | None | N |
| S/P | 0.7814 | likely_pathogenic | 0.8616 | pathogenic | -0.299 | Destabilizing | 0.593 | D | 0.425 | neutral | None | None | None | None | N |
| S/Q | 0.1947 | likely_benign | 0.2559 | benign | -0.52 | Destabilizing | 0.01 | N | 0.221 | neutral | None | None | None | None | N |
| S/R | 0.1585 | likely_benign | 0.2333 | benign | -0.396 | Destabilizing | 0.408 | N | 0.393 | neutral | N | 0.422854488 | None | None | N |
| S/T | 0.0627 | likely_benign | 0.0644 | benign | -0.454 | Destabilizing | 0.003 | N | 0.171 | neutral | N | 0.423931924 | None | None | N |
| S/V | 0.1075 | likely_benign | 0.1213 | benign | -0.299 | Destabilizing | 0.264 | N | 0.391 | neutral | None | None | None | None | N |
| S/W | 0.2206 | likely_benign | 0.3316 | benign | -0.934 | Destabilizing | 0.983 | D | 0.429 | neutral | None | None | None | None | N |
| S/Y | 0.1132 | likely_benign | 0.1415 | benign | -0.671 | Destabilizing | 0.716 | D | 0.435 | 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.