Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2089 | 6490;6491;6492 | chr2:178775599;178775598;178775597 | chr2:179640326;179640325;179640324 |
| N2AB | 2089 | 6490;6491;6492 | chr2:178775599;178775598;178775597 | chr2:179640326;179640325;179640324 |
| N2A | 2089 | 6490;6491;6492 | chr2:178775599;178775598;178775597 | chr2:179640326;179640325;179640324 |
| N2B | 2043 | 6352;6353;6354 | chr2:178775599;178775598;178775597 | chr2:179640326;179640325;179640324 |
| Novex-1 | 2043 | 6352;6353;6354 | chr2:178775599;178775598;178775597 | chr2:179640326;179640325;179640324 |
| Novex-2 | 2043 | 6352;6353;6354 | chr2:178775599;178775598;178775597 | chr2:179640326;179640325;179640324 |
| Novex-3 | 2089 | 6490;6491;6492 | chr2:178775599;178775598;178775597 | chr2:179640326;179640325;179640324 |
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 | rs1436344691  |
-1.699 | 0.999 | D | 0.453 | 0.653 | 0.729153541304 | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 6.48E-05 | 0 |
| V/A | rs1436344691 |
-1.699 | 0.999 | D | 0.453 | 0.653 | 0.729153541304 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| V/A | rs1436344691 |
-1.699 | 0.999 | D | 0.453 | 0.653 | 0.729153541304 | gnomAD-4.0.0 | 1.85873E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54235E-06 | 0 | 0 |
| V/E | None | None | 1.0 | D | 0.688 | 0.819 | 0.891950675791 | gnomAD-4.0.0 | 3.42044E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.49648E-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 | 0.4463 | ambiguous | 0.4214 | ambiguous | -1.498 | Destabilizing | 0.999 | D | 0.453 | neutral | D | 0.549613724 | None | None | N |
| V/C | 0.9406 | likely_pathogenic | 0.9415 | pathogenic | -1.187 | Destabilizing | 1.0 | D | 0.675 | prob.neutral | None | None | None | None | N |
| V/D | 0.9787 | likely_pathogenic | 0.977 | pathogenic | -1.183 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | None | None | None | None | N |
| V/E | 0.907 | likely_pathogenic | 0.8933 | pathogenic | -1.186 | Destabilizing | 1.0 | D | 0.688 | prob.neutral | D | 0.731282491 | None | None | N |
| V/F | 0.7276 | likely_pathogenic | 0.6745 | pathogenic | -1.219 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| V/G | 0.8292 | likely_pathogenic | 0.8212 | pathogenic | -1.808 | Destabilizing | 1.0 | D | 0.714 | prob.delet. | D | 0.671369354 | None | None | N |
| V/H | 0.9749 | likely_pathogenic | 0.9667 | pathogenic | -1.314 | Destabilizing | 1.0 | D | 0.681 | prob.neutral | None | None | None | None | N |
| V/I | 0.1122 | likely_benign | 0.1067 | benign | -0.748 | Destabilizing | 0.998 | D | 0.501 | neutral | None | None | None | None | N |
| V/K | 0.9214 | likely_pathogenic | 0.8988 | pathogenic | -1.143 | Destabilizing | 1.0 | D | 0.686 | prob.neutral | None | None | None | None | N |
| V/L | 0.6293 | likely_pathogenic | 0.5608 | ambiguous | -0.748 | Destabilizing | 0.997 | D | 0.495 | neutral | D | 0.586980488 | None | None | N |
| V/M | 0.4533 | ambiguous | 0.4038 | ambiguous | -0.662 | Destabilizing | 1.0 | D | 0.743 | deleterious | D | 0.702852183 | None | None | N |
| V/N | 0.9359 | likely_pathogenic | 0.9303 | pathogenic | -0.957 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| V/P | 0.9936 | likely_pathogenic | 0.9942 | pathogenic | -0.963 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| V/Q | 0.8882 | likely_pathogenic | 0.8698 | pathogenic | -1.141 | Destabilizing | 1.0 | D | 0.7 | prob.neutral | None | None | None | None | N |
| V/R | 0.8954 | likely_pathogenic | 0.8726 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.706 | prob.neutral | None | None | None | None | N |
| V/S | 0.7259 | likely_pathogenic | 0.7146 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | None | None | None | None | N |
| V/T | 0.4168 | ambiguous | 0.3897 | ambiguous | -1.422 | Destabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| V/W | 0.9948 | likely_pathogenic | 0.9928 | pathogenic | -1.357 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| V/Y | 0.9749 | likely_pathogenic | 0.9678 | pathogenic | -1.059 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | 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.