Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33714 | 101365;101366;101367 | chr2:178535475;178535474;178535473 | chr2:179400202;179400201;179400200 |
| N2AB | 32073 | 96442;96443;96444 | chr2:178535475;178535474;178535473 | chr2:179400202;179400201;179400200 |
| N2A | 31146 | 93661;93662;93663 | chr2:178535475;178535474;178535473 | chr2:179400202;179400201;179400200 |
| N2B | 24649 | 74170;74171;74172 | chr2:178535475;178535474;178535473 | chr2:179400202;179400201;179400200 |
| Novex-1 | 24774 | 74545;74546;74547 | chr2:178535475;178535474;178535473 | chr2:179400202;179400201;179400200 |
| Novex-2 | 24841 | 74746;74747;74748 | chr2:178535475;178535474;178535473 | chr2:179400202;179400201;179400200 |
| 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/T | rs776948324  |
-0.148 | 0.999 | N | 0.682 | 0.216 | 0.337135696972 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/T | rs776948324 |
-0.148 | 0.999 | N | 0.682 | 0.216 | 0.337135696972 | gnomAD-4.0.0 | 1.23157E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.43912E-05 | 1.15931E-05 | 1.65645E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5603 | ambiguous | 0.5874 | pathogenic | -0.707 | Destabilizing | 1.0 | D | 0.664 | neutral | None | None | None | None | N |
| A/D | 0.258 | likely_benign | 0.2442 | benign | -0.567 | Destabilizing | 1.0 | D | 0.782 | deleterious | N | 0.483232865 | None | None | N |
| A/E | 0.2248 | likely_benign | 0.2133 | benign | -0.732 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| A/F | 0.3448 | ambiguous | 0.3345 | benign | -0.95 | Destabilizing | 1.0 | D | 0.748 | deleterious | None | None | None | None | N |
| A/G | 0.1604 | likely_benign | 0.1659 | benign | -0.283 | Destabilizing | 0.987 | D | 0.581 | neutral | N | 0.444850622 | None | None | N |
| A/H | 0.4724 | ambiguous | 0.466 | ambiguous | -0.333 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| A/I | 0.1864 | likely_benign | 0.1863 | benign | -0.374 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/K | 0.3824 | ambiguous | 0.3614 | ambiguous | -0.58 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | N |
| A/L | 0.1398 | likely_benign | 0.1461 | benign | -0.374 | Destabilizing | 1.0 | D | 0.695 | prob.neutral | None | None | None | None | N |
| A/M | 0.234 | likely_benign | 0.2402 | benign | -0.374 | Destabilizing | 1.0 | D | 0.661 | neutral | None | None | None | None | N |
| A/N | 0.2207 | likely_benign | 0.22 | benign | -0.241 | Destabilizing | 0.998 | D | 0.778 | deleterious | None | None | None | None | N |
| A/P | 0.2152 | likely_benign | 0.216 | benign | -0.302 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.48925476 | None | None | N |
| A/Q | 0.2847 | likely_benign | 0.2803 | benign | -0.55 | Destabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| A/R | 0.3743 | ambiguous | 0.3436 | ambiguous | -0.092 | Destabilizing | 1.0 | D | 0.743 | deleterious | None | None | None | None | N |
| A/S | 0.0926 | likely_benign | 0.0936 | benign | -0.407 | Destabilizing | 0.983 | D | 0.589 | neutral | N | 0.474170664 | None | None | N |
| A/T | 0.0861 | likely_benign | 0.085 | benign | -0.498 | Destabilizing | 0.999 | D | 0.682 | prob.neutral | N | 0.485849095 | None | None | N |
| A/V | 0.1055 | likely_benign | 0.1073 | benign | -0.302 | Destabilizing | 0.999 | D | 0.626 | neutral | N | 0.490468268 | None | None | N |
| A/W | 0.7826 | likely_pathogenic | 0.774 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| A/Y | 0.5186 | ambiguous | 0.5127 | ambiguous | -0.728 | Destabilizing | 1.0 | D | 0.738 | 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.