Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7889 | 23890;23891;23892 | chr2:178719827;178719826;178719825 | chr2:179584554;179584553;179584552 |
| N2AB | 7572 | 22939;22940;22941 | chr2:178719827;178719826;178719825 | chr2:179584554;179584553;179584552 |
| N2A | 6645 | 20158;20159;20160 | chr2:178719827;178719826;178719825 | chr2:179584554;179584553;179584552 |
| 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/E | None | None | 0.978 | N | 0.708 | 0.449 | 0.417208245017 | gnomAD-4.0.0 | 2.06755E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.713E-06 | 0 | 0 |
| A/S | rs777855676  |
-1.364 | 0.928 | N | 0.585 | 0.241 | 0.253726318573 | gnomAD-2.1.1 | 4.15E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.17E-06 | 0 |
| A/S | rs777855676 |
-1.364 | 0.928 | N | 0.585 | 0.241 | 0.253726318573 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| A/S | rs777855676 |
-1.364 | 0.928 | N | 0.585 | 0.241 | 0.253726318573 | gnomAD-4.0.0 | 3.11945E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 4.26003E-06 | 0 | 0 |
| A/T | rs777855676 |
-1.325 | 0.928 | N | 0.668 | 0.291 | 0.285316908763 | gnomAD-2.1.1 | 6.64E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 5.52219E-04 | None | 0 | 0 | 0 |
| A/T | rs777855676 |
-1.325 | 0.928 | N | 0.668 | 0.291 | 0.285316908763 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07555E-04 | 0 |
| A/T | rs777855676 |
-1.325 | 0.928 | N | 0.668 | 0.291 | 0.285316908763 | gnomAD-4.0.0 | 4.05528E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.52006E-07 | 7.14924E-04 | 0 |
| A/V | None | None | 0.928 | N | 0.623 | 0.408 | 0.37762505005 | gnomAD-4.0.0 | 6.89185E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.04332E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.9332 | likely_pathogenic | 0.9209 | pathogenic | -1.237 | Destabilizing | 0.999 | D | 0.741 | deleterious | None | None | None | None | N |
| A/D | 0.9944 | likely_pathogenic | 0.9924 | pathogenic | -1.49 | Destabilizing | 0.983 | D | 0.766 | deleterious | None | None | None | None | N |
| A/E | 0.9867 | likely_pathogenic | 0.984 | pathogenic | -1.527 | Destabilizing | 0.978 | D | 0.708 | prob.delet. | N | 0.491745586 | None | None | N |
| A/F | 0.9914 | likely_pathogenic | 0.9904 | pathogenic | -1.174 | Destabilizing | 0.999 | D | 0.785 | deleterious | None | None | None | None | N |
| A/G | 0.5581 | ambiguous | 0.5332 | ambiguous | -1.223 | Destabilizing | 0.928 | D | 0.583 | neutral | N | 0.491745586 | None | None | N |
| A/H | 0.997 | likely_pathogenic | 0.9962 | pathogenic | -1.285 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| A/I | 0.9606 | likely_pathogenic | 0.9495 | pathogenic | -0.497 | Destabilizing | 0.992 | D | 0.791 | deleterious | None | None | None | None | N |
| A/K | 0.9982 | likely_pathogenic | 0.9977 | pathogenic | -1.167 | Destabilizing | 0.983 | D | 0.716 | prob.delet. | None | None | None | None | N |
| A/L | 0.9072 | likely_pathogenic | 0.8954 | pathogenic | -0.497 | Destabilizing | 0.944 | D | 0.679 | prob.neutral | None | None | None | None | N |
| A/M | 0.9669 | likely_pathogenic | 0.962 | pathogenic | -0.5 | Destabilizing | 0.999 | D | 0.775 | deleterious | None | None | None | None | N |
| A/N | 0.9913 | likely_pathogenic | 0.988 | pathogenic | -0.979 | Destabilizing | 0.992 | D | 0.785 | deleterious | None | None | None | None | N |
| A/P | 0.6402 | likely_pathogenic | 0.3835 | ambiguous | -0.622 | Destabilizing | 0.039 | N | 0.358 | neutral | N | 0.40113069 | None | None | N |
| A/Q | 0.9867 | likely_pathogenic | 0.9849 | pathogenic | -1.193 | Destabilizing | 0.992 | D | 0.801 | deleterious | None | None | None | None | N |
| A/R | 0.992 | likely_pathogenic | 0.9916 | pathogenic | -0.818 | Destabilizing | 0.992 | D | 0.801 | deleterious | None | None | None | None | N |
| A/S | 0.4192 | ambiguous | 0.3666 | ambiguous | -1.333 | Destabilizing | 0.928 | D | 0.585 | neutral | N | 0.480896259 | None | None | N |
| A/T | 0.8153 | likely_pathogenic | 0.7605 | pathogenic | -1.28 | Destabilizing | 0.928 | D | 0.668 | neutral | N | 0.493266523 | None | None | N |
| A/V | 0.8077 | likely_pathogenic | 0.7605 | pathogenic | -0.622 | Destabilizing | 0.928 | D | 0.623 | neutral | N | 0.494026991 | None | None | N |
| A/W | 0.999 | likely_pathogenic | 0.9988 | pathogenic | -1.449 | Destabilizing | 0.999 | D | 0.787 | deleterious | None | None | None | None | N |
| A/Y | 0.9966 | likely_pathogenic | 0.9962 | pathogenic | -1.056 | Destabilizing | 0.999 | D | 0.783 | 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.