Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16155 | 48688;48689;48690 | chr2:178615482;178615481;178615480 | chr2:179480209;179480208;179480207 |
| N2AB | 14514 | 43765;43766;43767 | chr2:178615482;178615481;178615480 | chr2:179480209;179480208;179480207 |
| N2A | 13587 | 40984;40985;40986 | chr2:178615482;178615481;178615480 | chr2:179480209;179480208;179480207 |
| N2B | 7090 | 21493;21494;21495 | chr2:178615482;178615481;178615480 | chr2:179480209;179480208;179480207 |
| Novex-1 | 7215 | 21868;21869;21870 | chr2:178615482;178615481;178615480 | chr2:179480209;179480208;179480207 |
| Novex-2 | 7282 | 22069;22070;22071 | chr2:178615482;178615481;178615480 | chr2:179480209;179480208;179480207 |
| 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/I | rs748631024  |
-0.31 | 0.355 | N | 0.137 | 0.141 | 0.40528724903 | gnomAD-2.1.1 | 3.59E-05 | None | None | None | None | I | None | 0 | 2.84787E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/I | rs748631024 |
-0.31 | 0.355 | N | 0.137 | 0.141 | 0.40528724903 | gnomAD-3.1.2 | 1.98E-05 | None | None | None | None | I | None | 0 | 1.97031E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs748631024 |
-0.31 | 0.355 | N | 0.137 | 0.141 | 0.40528724903 | gnomAD-4.0.0 | 1.54306E-05 | None | None | None | None | I | None | 0 | 2.04193E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs748631024 |
None | 0.894 | N | 0.424 | 0.166 | 0.442160178816 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.95313E-04 | None | 0 | 0 | 0 | 0 | 0 |
| V/L | rs748631024 |
None | 0.894 | N | 0.424 | 0.166 | 0.442160178816 | gnomAD-4.0.0 | 6.58415E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.95313E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.2341 | likely_benign | 0.2401 | benign | -0.663 | Destabilizing | 0.988 | D | 0.374 | neutral | N | 0.464430381 | None | None | I |
| V/C | 0.775 | likely_pathogenic | 0.7824 | pathogenic | -0.634 | Destabilizing | 1.0 | D | 0.602 | neutral | None | None | None | None | I |
| V/D | 0.7308 | likely_pathogenic | 0.7023 | pathogenic | -0.516 | Destabilizing | 0.999 | D | 0.781 | deleterious | None | None | None | None | I |
| V/E | 0.4532 | ambiguous | 0.4476 | ambiguous | -0.64 | Destabilizing | 0.999 | D | 0.748 | deleterious | N | 0.506650252 | None | None | I |
| V/F | 0.3556 | ambiguous | 0.3197 | benign | -1.058 | Destabilizing | 0.997 | D | 0.589 | neutral | None | None | None | None | I |
| V/G | 0.4692 | ambiguous | 0.4541 | ambiguous | -0.783 | Destabilizing | 0.999 | D | 0.777 | deleterious | D | 0.617961307 | None | None | I |
| V/H | 0.7943 | likely_pathogenic | 0.7931 | pathogenic | -0.389 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| V/I | 0.0782 | likely_benign | 0.0789 | benign | -0.494 | Destabilizing | 0.355 | N | 0.137 | neutral | N | 0.472333894 | None | None | I |
| V/K | 0.5257 | ambiguous | 0.5132 | ambiguous | -0.338 | Destabilizing | 0.999 | D | 0.75 | deleterious | None | None | None | None | I |
| V/L | 0.2613 | likely_benign | 0.2462 | benign | -0.494 | Destabilizing | 0.894 | D | 0.424 | neutral | N | 0.505471791 | None | None | I |
| V/M | 0.2021 | likely_benign | 0.2003 | benign | -0.279 | Destabilizing | 0.997 | D | 0.569 | neutral | None | None | None | None | I |
| V/N | 0.5388 | ambiguous | 0.5187 | ambiguous | -0.096 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | I |
| V/P | 0.3396 | likely_benign | 0.3688 | ambiguous | -0.517 | Destabilizing | 0.999 | D | 0.769 | deleterious | None | None | None | None | I |
| V/Q | 0.453 | ambiguous | 0.4608 | ambiguous | -0.431 | Destabilizing | 0.999 | D | 0.747 | deleterious | None | None | None | None | I |
| V/R | 0.509 | ambiguous | 0.4813 | ambiguous | 0.198 | Stabilizing | 0.999 | D | 0.767 | deleterious | None | None | None | None | I |
| V/S | 0.3719 | ambiguous | 0.369 | ambiguous | -0.465 | Destabilizing | 0.999 | D | 0.725 | deleterious | None | None | None | None | I |
| V/T | 0.2553 | likely_benign | 0.2561 | benign | -0.497 | Destabilizing | 0.991 | D | 0.625 | neutral | None | None | None | None | I |
| V/W | 0.9316 | likely_pathogenic | 0.9218 | pathogenic | -1.088 | Destabilizing | 1.0 | D | 0.764 | deleterious | None | None | None | None | I |
| V/Y | 0.7571 | likely_pathogenic | 0.7361 | pathogenic | -0.753 | Destabilizing | 0.999 | D | 0.574 | neutral | 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.