Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30986 | 93181;93182;93183 | chr2:178548670;178548669;178548668 | chr2:179413397;179413396;179413395 |
| N2AB | 29345 | 88258;88259;88260 | chr2:178548670;178548669;178548668 | chr2:179413397;179413396;179413395 |
| N2A | 28418 | 85477;85478;85479 | chr2:178548670;178548669;178548668 | chr2:179413397;179413396;179413395 |
| N2B | 21921 | 65986;65987;65988 | chr2:178548670;178548669;178548668 | chr2:179413397;179413396;179413395 |
| Novex-1 | 22046 | 66361;66362;66363 | chr2:178548670;178548669;178548668 | chr2:179413397;179413396;179413395 |
| Novex-2 | 22113 | 66562;66563;66564 | chr2:178548670;178548669;178548668 | chr2:179413397;179413396;179413395 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/R | None | None | 1.0 | N | 0.77 | 0.657 | 0.854901379662 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| C/S | rs1181542972  |
-0.405 | 1.0 | N | 0.711 | 0.546 | 0.712579179446 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| C/S | rs1181542972 |
-0.405 | 1.0 | N | 0.711 | 0.546 | 0.712579179446 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.5531 | ambiguous | 0.5335 | ambiguous | -0.011 | Destabilizing | 0.998 | D | 0.523 | neutral | None | None | None | None | N |
| C/D | 0.9957 | likely_pathogenic | 0.9953 | pathogenic | -1.329 | Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| C/E | 0.9979 | likely_pathogenic | 0.9979 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| C/F | 0.9553 | likely_pathogenic | 0.9597 | pathogenic | -0.441 | Destabilizing | 1.0 | D | 0.754 | deleterious | N | 0.498681703 | None | None | N |
| C/G | 0.5422 | ambiguous | 0.5255 | ambiguous | -0.198 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.534731625 | None | None | N |
| C/H | 0.9912 | likely_pathogenic | 0.9916 | pathogenic | -1.007 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| C/I | 0.8711 | likely_pathogenic | 0.8734 | pathogenic | 0.394 | Stabilizing | 1.0 | D | 0.739 | prob.delet. | None | None | None | None | N |
| C/K | 0.9987 | likely_pathogenic | 0.9988 | pathogenic | 0.138 | Stabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| C/L | 0.9143 | likely_pathogenic | 0.9169 | pathogenic | 0.394 | Stabilizing | 0.999 | D | 0.601 | neutral | None | None | None | None | N |
| C/M | 0.9497 | likely_pathogenic | 0.9531 | pathogenic | 0.806 | Stabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| C/N | 0.9674 | likely_pathogenic | 0.9661 | pathogenic | -0.214 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | N |
| C/P | 0.986 | likely_pathogenic | 0.9825 | pathogenic | 0.286 | Stabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | N |
| C/Q | 0.9922 | likely_pathogenic | 0.9929 | pathogenic | -0.28 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| C/R | 0.9882 | likely_pathogenic | 0.9891 | pathogenic | -0.043 | Destabilizing | 1.0 | D | 0.77 | deleterious | N | 0.499188682 | None | None | N |
| C/S | 0.4307 | ambiguous | 0.408 | ambiguous | -0.164 | Destabilizing | 1.0 | D | 0.711 | prob.delet. | N | 0.466602479 | None | None | N |
| C/T | 0.6324 | likely_pathogenic | 0.6249 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.711 | prob.delet. | None | None | None | None | N |
| C/V | 0.6804 | likely_pathogenic | 0.6603 | pathogenic | 0.286 | Stabilizing | 0.999 | D | 0.653 | neutral | None | None | None | None | N |
| C/W | 0.9908 | likely_pathogenic | 0.9914 | pathogenic | -0.893 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.499442172 | None | None | N |
| C/Y | 0.9839 | likely_pathogenic | 0.9852 | pathogenic | -0.394 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.499188682 | 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.