Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31634 | 95125;95126;95127 | chr2:178546431;178546430;178546429 | chr2:179411158;179411157;179411156 |
| N2AB | 29993 | 90202;90203;90204 | chr2:178546431;178546430;178546429 | chr2:179411158;179411157;179411156 |
| N2A | 29066 | 87421;87422;87423 | chr2:178546431;178546430;178546429 | chr2:179411158;179411157;179411156 |
| N2B | 22569 | 67930;67931;67932 | chr2:178546431;178546430;178546429 | chr2:179411158;179411157;179411156 |
| Novex-1 | 22694 | 68305;68306;68307 | chr2:178546431;178546430;178546429 | chr2:179411158;179411157;179411156 |
| Novex-2 | 22761 | 68506;68507;68508 | chr2:178546431;178546430;178546429 | chr2:179411158;179411157;179411156 |
| 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/G | rs1697167076  |
None | 1.0 | N | 0.77 | 0.578 | 0.699185091952 | gnomAD-4.0.0 | 2.05272E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69848E-06 | 0 | 0 |
| V/L | rs762250254 |
0.022 | 0.997 | N | 0.511 | 0.232 | 0.42538462244 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 0 |
| V/L | rs762250254 |
0.022 | 0.997 | N | 0.511 | 0.232 | 0.42538462244 | gnomAD-4.0.0 | 1.59143E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.8585E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.3637 | ambiguous | 0.3408 | ambiguous | -0.908 | Destabilizing | 0.999 | D | 0.533 | neutral | N | 0.514526059 | None | None | I |
| V/C | 0.7781 | likely_pathogenic | 0.7572 | pathogenic | -0.762 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | None | None | None | None | I |
| V/D | 0.7836 | likely_pathogenic | 0.7623 | pathogenic | -0.721 | Destabilizing | 1.0 | D | 0.777 | deleterious | N | 0.460669318 | None | None | I |
| V/E | 0.5602 | ambiguous | 0.5244 | ambiguous | -0.78 | Destabilizing | 1.0 | D | 0.762 | deleterious | None | None | None | None | I |
| V/F | 0.2362 | likely_benign | 0.2181 | benign | -0.826 | Destabilizing | 1.0 | D | 0.764 | deleterious | N | 0.478520084 | None | None | I |
| V/G | 0.4894 | ambiguous | 0.4778 | ambiguous | -1.134 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.479027063 | None | None | I |
| V/H | 0.6905 | likely_pathogenic | 0.6537 | pathogenic | -0.642 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | I |
| V/I | 0.0904 | likely_benign | 0.0846 | benign | -0.427 | Destabilizing | 0.997 | D | 0.458 | neutral | N | 0.489955688 | None | None | I |
| V/K | 0.5652 | likely_pathogenic | 0.5107 | ambiguous | -0.9 | Destabilizing | 1.0 | D | 0.765 | deleterious | None | None | None | None | I |
| V/L | 0.1973 | likely_benign | 0.1751 | benign | -0.427 | Destabilizing | 0.997 | D | 0.511 | neutral | N | 0.471196569 | None | None | I |
| V/M | 0.2107 | likely_benign | 0.183 | benign | -0.426 | Destabilizing | 1.0 | D | 0.655 | neutral | None | None | None | None | I |
| V/N | 0.5702 | likely_pathogenic | 0.5199 | ambiguous | -0.663 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| V/P | 0.9028 | likely_pathogenic | 0.8995 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| V/Q | 0.4481 | ambiguous | 0.4156 | ambiguous | -0.86 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| V/R | 0.4718 | ambiguous | 0.4549 | ambiguous | -0.35 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| V/S | 0.4415 | ambiguous | 0.4098 | ambiguous | -1.076 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| V/T | 0.3635 | ambiguous | 0.3287 | benign | -1.028 | Destabilizing | 0.999 | D | 0.585 | neutral | None | None | None | None | I |
| V/W | 0.8828 | likely_pathogenic | 0.8724 | pathogenic | -0.959 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | I |
| V/Y | 0.6605 | likely_pathogenic | 0.6321 | pathogenic | -0.672 | Destabilizing | 1.0 | D | 0.766 | 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.