Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34996 | 105211;105212;105213 | chr2:178531629;178531628;178531627 | chr2:179396356;179396355;179396354 |
| N2AB | 33355 | 100288;100289;100290 | chr2:178531629;178531628;178531627 | chr2:179396356;179396355;179396354 |
| N2A | 32428 | 97507;97508;97509 | chr2:178531629;178531628;178531627 | chr2:179396356;179396355;179396354 |
| N2B | 25931 | 78016;78017;78018 | chr2:178531629;178531628;178531627 | chr2:179396356;179396355;179396354 |
| Novex-1 | 26056 | 78391;78392;78393 | chr2:178531629;178531628;178531627 | chr2:179396356;179396355;179396354 |
| Novex-2 | 26123 | 78592;78593;78594 | chr2:178531629;178531628;178531627 | chr2:179396356;179396355;179396354 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs2154133672  |
None | 0.999 | N | 0.53 | 0.364 | 0.628255493996 | gnomAD-4.0.0 | 3.18178E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.7151E-06 | 0 | 0 |
| V/F | rs772718460 |
-1.071 | 1.0 | N | 0.767 | 0.467 | 0.735330036385 | gnomAD-2.1.1 | 6.37E-05 | None | None | None | None | I | None | 1.14863E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/F | rs772718460 |
-1.071 | 1.0 | N | 0.767 | 0.467 | 0.735330036385 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| V/F | rs772718460 |
-1.071 | 1.0 | N | 0.767 | 0.467 | 0.735330036385 | gnomAD-4.0.0 | 2.47847E-06 | None | None | None | None | I | None | 1.33461E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54259E-06 | 0 | 0 |
| V/I | rs772718460 |
-0.278 | 0.997 | D | 0.489 | 0.214 | 0.671718306961 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| V/I | rs772718460 |
-0.278 | 0.997 | D | 0.489 | 0.214 | 0.671718306961 | gnomAD-4.0.0 | 4.78898E-06 | None | None | None | None | I | None | 2.98704E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49699E-06 | 0 | 1.65634E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7728 | likely_pathogenic | 0.8918 | pathogenic | -1.251 | Destabilizing | 0.999 | D | 0.53 | neutral | N | 0.494553873 | None | None | I |
| V/C | 0.9544 | likely_pathogenic | 0.9715 | pathogenic | -1.177 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | I |
| V/D | 0.9238 | likely_pathogenic | 0.9758 | pathogenic | -0.994 | Destabilizing | 1.0 | D | 0.773 | deleterious | N | 0.497262898 | None | None | I |
| V/E | 0.8434 | likely_pathogenic | 0.9302 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| V/F | 0.532 | ambiguous | 0.7194 | pathogenic | -1.239 | Destabilizing | 1.0 | D | 0.767 | deleterious | N | 0.521957116 | None | None | I |
| V/G | 0.7819 | likely_pathogenic | 0.8995 | pathogenic | -1.502 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | N | 0.495567831 | None | None | I |
| V/H | 0.9466 | likely_pathogenic | 0.9762 | pathogenic | -1.004 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | I |
| V/I | 0.1256 | likely_benign | 0.1425 | benign | -0.683 | Destabilizing | 0.997 | D | 0.489 | neutral | D | 0.529208376 | None | None | I |
| V/K | 0.8741 | likely_pathogenic | 0.9407 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | I |
| V/L | 0.6252 | likely_pathogenic | 0.7887 | pathogenic | -0.683 | Destabilizing | 0.997 | D | 0.519 | neutral | N | 0.516780583 | None | None | I |
| V/M | 0.4416 | ambiguous | 0.6091 | pathogenic | -0.587 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| V/N | 0.8088 | likely_pathogenic | 0.9181 | pathogenic | -0.688 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| V/P | 0.9819 | likely_pathogenic | 0.9932 | pathogenic | -0.838 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| V/Q | 0.8248 | likely_pathogenic | 0.9152 | pathogenic | -0.935 | Destabilizing | 1.0 | D | 0.758 | deleterious | None | None | None | None | I |
| V/R | 0.8223 | likely_pathogenic | 0.9108 | pathogenic | -0.361 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | I |
| V/S | 0.7932 | likely_pathogenic | 0.9096 | pathogenic | -1.241 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| V/T | 0.688 | likely_pathogenic | 0.808 | pathogenic | -1.168 | Destabilizing | 0.999 | D | 0.631 | neutral | None | None | None | None | I |
| V/W | 0.9787 | likely_pathogenic | 0.9919 | pathogenic | -1.324 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | I |
| V/Y | 0.8968 | likely_pathogenic | 0.9503 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.767 | deleterious | 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.