Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9011 | 27256;27257;27258 | chr2:178713103;178713102;178713101 | chr2:179577830;179577829;179577828 |
| N2AB | 8694 | 26305;26306;26307 | chr2:178713103;178713102;178713101 | chr2:179577830;179577829;179577828 |
| N2A | 7767 | 23524;23525;23526 | chr2:178713103;178713102;178713101 | chr2:179577830;179577829;179577828 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/D | rs1280896226  |
None | 0.999 | D | 0.873 | 0.747 | 0.829205885197 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/D | rs1280896226 |
None | 0.999 | D | 0.873 | 0.747 | 0.829205885197 | gnomAD-4.0.0 | 6.5703E-06 | None | None | None | None | N | None | 2.41173E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs748877369 |
-0.409 | 0.999 | D | 0.878 | 0.622 | 0.612346595452 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| A/P | rs748877369 |
-0.409 | 0.999 | D | 0.878 | 0.622 | 0.612346595452 | gnomAD-4.0.0 | 1.59226E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86028E-06 | 0 | 0 |
| A/S | rs748877369 |
None | 0.957 | N | 0.381 | 0.406 | 0.384919354899 | 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 |
| A/S | rs748877369 |
None | 0.957 | N | 0.381 | 0.406 | 0.384919354899 | gnomAD-4.0.0 | 6.57082E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.47003E-05 | 0 | 0 |
| A/V | None | None | 0.998 | N | 0.679 | 0.403 | 0.585352569408 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6419 | likely_pathogenic | 0.6792 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.745 | deleterious | None | None | None | None | N |
| A/D | 0.8435 | likely_pathogenic | 0.9007 | pathogenic | -1.562 | Destabilizing | 0.999 | D | 0.873 | deleterious | D | 0.548281797 | None | None | N |
| A/E | 0.7899 | likely_pathogenic | 0.8658 | pathogenic | -1.607 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| A/F | 0.5273 | ambiguous | 0.6261 | pathogenic | -1.243 | Destabilizing | 1.0 | D | 0.893 | deleterious | None | None | None | None | N |
| A/G | 0.1438 | likely_benign | 0.1349 | benign | -1.219 | Destabilizing | 0.996 | D | 0.587 | neutral | D | 0.525829714 | None | None | N |
| A/H | 0.8374 | likely_pathogenic | 0.8913 | pathogenic | -1.365 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/I | 0.4579 | ambiguous | 0.6078 | pathogenic | -0.484 | Destabilizing | 1.0 | D | 0.876 | deleterious | None | None | None | None | N |
| A/K | 0.8698 | likely_pathogenic | 0.9246 | pathogenic | -1.159 | Destabilizing | 0.999 | D | 0.819 | deleterious | None | None | None | None | N |
| A/L | 0.3918 | ambiguous | 0.4891 | ambiguous | -0.484 | Destabilizing | 0.998 | D | 0.792 | deleterious | None | None | None | None | N |
| A/M | 0.4156 | ambiguous | 0.5463 | ambiguous | -0.354 | Destabilizing | 1.0 | D | 0.842 | deleterious | None | None | None | None | N |
| A/N | 0.7465 | likely_pathogenic | 0.8264 | pathogenic | -0.929 | Destabilizing | 0.999 | D | 0.88 | deleterious | None | None | None | None | N |
| A/P | 0.9494 | likely_pathogenic | 0.9636 | pathogenic | -0.611 | Destabilizing | 0.999 | D | 0.878 | deleterious | D | 0.548281797 | None | None | N |
| A/Q | 0.7523 | likely_pathogenic | 0.8218 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| A/R | 0.7912 | likely_pathogenic | 0.8631 | pathogenic | -0.782 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/S | 0.1295 | likely_benign | 0.1423 | benign | -1.251 | Destabilizing | 0.957 | D | 0.381 | neutral | N | 0.503310648 | None | None | N |
| A/T | 0.1747 | likely_benign | 0.2328 | benign | -1.209 | Destabilizing | 0.992 | D | 0.656 | neutral | D | 0.534755842 | None | None | N |
| A/V | 0.2239 | likely_benign | 0.318 | benign | -0.611 | Destabilizing | 0.998 | D | 0.679 | prob.neutral | N | 0.503064711 | None | None | N |
| A/W | 0.9352 | likely_pathogenic | 0.9574 | pathogenic | -1.553 | Destabilizing | 1.0 | D | 0.855 | deleterious | None | None | None | None | N |
| A/Y | 0.7793 | likely_pathogenic | 0.8396 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.887 | deleterious | 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.