Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32686 | 98281;98282;98283 | chr2:178540110;178540109;178540108 | chr2:179404837;179404836;179404835 |
| N2AB | 31045 | 93358;93359;93360 | chr2:178540110;178540109;178540108 | chr2:179404837;179404836;179404835 |
| N2A | 30118 | 90577;90578;90579 | chr2:178540110;178540109;178540108 | chr2:179404837;179404836;179404835 |
| N2B | 23621 | 71086;71087;71088 | chr2:178540110;178540109;178540108 | chr2:179404837;179404836;179404835 |
| Novex-1 | 23746 | 71461;71462;71463 | chr2:178540110;178540109;178540108 | chr2:179404837;179404836;179404835 |
| Novex-2 | 23813 | 71662;71663;71664 | chr2:178540110;178540109;178540108 | chr2:179404837;179404836;179404835 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | None | None | 0.767 | N | 0.465 | 0.233 | 0.225902525712 | gnomAD-4.0.0 | 6.86024E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.66118E-05 |
| P/S | None | None | 0.998 | N | 0.705 | 0.342 | 0.27132560031 | gnomAD-4.0.0 | 6.86024E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.01817E-07 | 0 | 0 |
| P/T | None | None | 0.999 | N | 0.711 | 0.339 | 0.461671691612 | gnomAD-4.0.0 | 1.37205E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.80363E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.096 | likely_benign | 0.1023 | benign | -1.25 | Destabilizing | 0.767 | D | 0.465 | neutral | N | 0.513726343 | None | None | N |
| P/C | 0.6843 | likely_pathogenic | 0.6965 | pathogenic | -0.802 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| P/D | 0.8257 | likely_pathogenic | 0.8587 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| P/E | 0.6399 | likely_pathogenic | 0.6953 | pathogenic | -1.077 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/F | 0.7101 | likely_pathogenic | 0.7276 | pathogenic | -1.048 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| P/G | 0.4771 | ambiguous | 0.4892 | ambiguous | -1.497 | Destabilizing | 0.997 | D | 0.721 | prob.delet. | None | None | None | None | N |
| P/H | 0.5008 | ambiguous | 0.534 | ambiguous | -0.941 | Destabilizing | 1.0 | D | 0.841 | deleterious | N | 0.487813972 | None | None | N |
| P/I | 0.6063 | likely_pathogenic | 0.6691 | pathogenic | -0.698 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| P/K | 0.7023 | likely_pathogenic | 0.7588 | pathogenic | -1.112 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/L | 0.3618 | ambiguous | 0.4038 | ambiguous | -0.698 | Destabilizing | 0.999 | D | 0.767 | deleterious | N | 0.508156271 | None | None | N |
| P/M | 0.5845 | likely_pathogenic | 0.6195 | pathogenic | -0.533 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| P/N | 0.7363 | likely_pathogenic | 0.7656 | pathogenic | -0.8 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| P/Q | 0.5123 | ambiguous | 0.5565 | ambiguous | -1.043 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| P/R | 0.5904 | likely_pathogenic | 0.662 | pathogenic | -0.486 | Destabilizing | 0.999 | D | 0.838 | deleterious | D | 0.532554403 | None | None | N |
| P/S | 0.2799 | likely_benign | 0.3014 | benign | -1.247 | Destabilizing | 0.998 | D | 0.705 | prob.neutral | N | 0.491065974 | None | None | N |
| P/T | 0.2788 | likely_benign | 0.3321 | benign | -1.204 | Destabilizing | 0.999 | D | 0.711 | prob.delet. | N | 0.503347333 | None | None | N |
| P/V | 0.4343 | ambiguous | 0.4955 | ambiguous | -0.847 | Destabilizing | 0.999 | D | 0.721 | prob.delet. | None | None | None | None | N |
| P/W | 0.8404 | likely_pathogenic | 0.8563 | pathogenic | -1.15 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/Y | 0.7003 | likely_pathogenic | 0.7131 | pathogenic | -0.903 | Destabilizing | 1.0 | D | 0.873 | 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.