Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32901 | 98926;98927;98928 | chr2:178539234;178539233;178539232 | chr2:179403961;179403960;179403959 |
| N2AB | 31260 | 94003;94004;94005 | chr2:178539234;178539233;178539232 | chr2:179403961;179403960;179403959 |
| N2A | 30333 | 91222;91223;91224 | chr2:178539234;178539233;178539232 | chr2:179403961;179403960;179403959 |
| N2B | 23836 | 71731;71732;71733 | chr2:178539234;178539233;178539232 | chr2:179403961;179403960;179403959 |
| Novex-1 | 23961 | 72106;72107;72108 | chr2:178539234;178539233;178539232 | chr2:179403961;179403960;179403959 |
| Novex-2 | 24028 | 72307;72308;72309 | chr2:178539234;178539233;178539232 | chr2:179403961;179403960;179403959 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.805 | N | 0.475 | 0.182 | 0.229264304666 | gnomAD-4.0.0 | 6.84378E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51965E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/I | None | None | 0.983 | N | 0.778 | 0.266 | 0.358340041657 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| S/R | rs1450732956  |
-0.475 | 0.967 | N | 0.732 | 0.264 | 0.31501682445 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.88E-06 | 0 |
| S/R | rs1450732956 |
-0.475 | 0.967 | N | 0.732 | 0.264 | 0.31501682445 | gnomAD-4.0.0 | 6.84378E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99703E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0933 | likely_benign | 0.0782 | benign | -0.535 | Destabilizing | 0.818 | D | 0.464 | neutral | None | None | None | None | N |
| S/C | 0.1132 | likely_benign | 0.1 | benign | -0.351 | Destabilizing | 0.999 | D | 0.709 | prob.delet. | N | 0.484961637 | None | None | N |
| S/D | 0.4738 | ambiguous | 0.4349 | ambiguous | -0.232 | Destabilizing | 0.845 | D | 0.523 | neutral | None | None | None | None | N |
| S/E | 0.5634 | ambiguous | 0.4924 | ambiguous | -0.292 | Destabilizing | 0.916 | D | 0.535 | neutral | None | None | None | None | N |
| S/F | 0.3237 | likely_benign | 0.2274 | benign | -0.865 | Destabilizing | 0.996 | D | 0.776 | deleterious | None | None | None | None | N |
| S/G | 0.0853 | likely_benign | 0.0757 | benign | -0.721 | Destabilizing | 0.805 | D | 0.475 | neutral | N | 0.502671482 | None | None | N |
| S/H | 0.4166 | ambiguous | 0.3703 | ambiguous | -1.248 | Destabilizing | 0.997 | D | 0.741 | deleterious | None | None | None | None | N |
| S/I | 0.1639 | likely_benign | 0.123 | benign | -0.162 | Destabilizing | 0.983 | D | 0.778 | deleterious | N | 0.48318721 | None | None | N |
| S/K | 0.7201 | likely_pathogenic | 0.6687 | pathogenic | -0.788 | Destabilizing | 0.916 | D | 0.551 | neutral | None | None | None | None | N |
| S/L | 0.1389 | likely_benign | 0.1072 | benign | -0.162 | Destabilizing | 0.987 | D | 0.652 | neutral | None | None | None | None | N |
| S/M | 0.2497 | likely_benign | 0.1844 | benign | 0.16 | Stabilizing | 0.999 | D | 0.722 | prob.delet. | None | None | None | None | N |
| S/N | 0.1236 | likely_benign | 0.1072 | benign | -0.522 | Destabilizing | 0.025 | N | 0.347 | neutral | N | 0.472933769 | None | None | N |
| S/P | 0.2616 | likely_benign | 0.2026 | benign | -0.255 | Destabilizing | 0.996 | D | 0.751 | deleterious | None | None | None | None | N |
| S/Q | 0.5024 | ambiguous | 0.4226 | ambiguous | -0.765 | Destabilizing | 0.975 | D | 0.699 | prob.neutral | None | None | None | None | N |
| S/R | 0.6754 | likely_pathogenic | 0.6236 | pathogenic | -0.57 | Destabilizing | 0.967 | D | 0.732 | prob.delet. | N | 0.460056526 | None | None | N |
| S/T | 0.0956 | likely_benign | 0.0783 | benign | -0.576 | Destabilizing | 0.892 | D | 0.452 | neutral | N | 0.455675206 | None | None | N |
| S/V | 0.1734 | likely_benign | 0.1268 | benign | -0.255 | Destabilizing | 0.987 | D | 0.739 | prob.delet. | None | None | None | None | N |
| S/W | 0.5126 | ambiguous | 0.4241 | ambiguous | -0.844 | Destabilizing | 0.999 | D | 0.771 | deleterious | None | None | None | None | N |
| S/Y | 0.3094 | likely_benign | 0.2505 | benign | -0.605 | Destabilizing | 0.996 | D | 0.779 | 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.