Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29417 | 88474;88475;88476 | chr2:178556905;178556904;178556903 | chr2:179421632;179421631;179421630 |
| N2AB | 27776 | 83551;83552;83553 | chr2:178556905;178556904;178556903 | chr2:179421632;179421631;179421630 |
| N2A | 26849 | 80770;80771;80772 | chr2:178556905;178556904;178556903 | chr2:179421632;179421631;179421630 |
| N2B | 20352 | 61279;61280;61281 | chr2:178556905;178556904;178556903 | chr2:179421632;179421631;179421630 |
| Novex-1 | 20477 | 61654;61655;61656 | chr2:178556905;178556904;178556903 | chr2:179421632;179421631;179421630 |
| Novex-2 | 20544 | 61855;61856;61857 | chr2:178556905;178556904;178556903 | chr2:179421632;179421631;179421630 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/C | None | None | 0.999 | D | 0.8 | 0.565 | 0.818267759757 | gnomAD-4.0.0 | 6.84226E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99444E-07 | 0 | 0 |
| G/R | rs750047438  |
-0.232 | 0.989 | D | 0.879 | 0.591 | 0.734105266762 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| G/R | rs750047438 |
-0.232 | 0.989 | D | 0.879 | 0.591 | 0.734105266762 | gnomAD-4.0.0 | 6.84226E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.15937E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.5842 | likely_pathogenic | 0.3683 | ambiguous | -0.354 | Destabilizing | 0.926 | D | 0.632 | neutral | D | 0.570775419 | None | None | I |
| G/C | 0.6843 | likely_pathogenic | 0.4723 | ambiguous | -0.937 | Destabilizing | 0.999 | D | 0.8 | deleterious | D | 0.571789378 | None | None | I |
| G/D | 0.7215 | likely_pathogenic | 0.5062 | ambiguous | -0.485 | Destabilizing | 0.989 | D | 0.864 | deleterious | D | 0.524425145 | None | None | I |
| G/E | 0.8373 | likely_pathogenic | 0.648 | pathogenic | -0.652 | Destabilizing | 0.983 | D | 0.885 | deleterious | None | None | None | None | I |
| G/F | 0.9531 | likely_pathogenic | 0.8696 | pathogenic | -1.078 | Destabilizing | 0.999 | D | 0.863 | deleterious | None | None | None | None | I |
| G/H | 0.8849 | likely_pathogenic | 0.7519 | pathogenic | -0.522 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | I |
| G/I | 0.9387 | likely_pathogenic | 0.8375 | pathogenic | -0.528 | Destabilizing | 0.998 | D | 0.857 | deleterious | None | None | None | None | I |
| G/K | 0.9449 | likely_pathogenic | 0.8729 | pathogenic | -0.762 | Destabilizing | 0.983 | D | 0.885 | deleterious | None | None | None | None | I |
| G/L | 0.905 | likely_pathogenic | 0.7806 | pathogenic | -0.528 | Destabilizing | 0.991 | D | 0.865 | deleterious | None | None | None | None | I |
| G/M | 0.9336 | likely_pathogenic | 0.8305 | pathogenic | -0.517 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | I |
| G/N | 0.6113 | likely_pathogenic | 0.4269 | ambiguous | -0.452 | Destabilizing | 0.983 | D | 0.823 | deleterious | None | None | None | None | I |
| G/P | 0.9939 | likely_pathogenic | 0.9843 | pathogenic | -0.439 | Destabilizing | 0.991 | D | 0.875 | deleterious | None | None | None | None | I |
| G/Q | 0.8318 | likely_pathogenic | 0.6788 | pathogenic | -0.746 | Destabilizing | 0.998 | D | 0.868 | deleterious | None | None | None | None | I |
| G/R | 0.8875 | likely_pathogenic | 0.7628 | pathogenic | -0.312 | Destabilizing | 0.989 | D | 0.879 | deleterious | D | 0.552164185 | None | None | I |
| G/S | 0.3448 | ambiguous | 0.1924 | benign | -0.619 | Destabilizing | 0.153 | N | 0.594 | neutral | D | 0.54080788 | None | None | I |
| G/T | 0.7513 | likely_pathogenic | 0.5459 | ambiguous | -0.715 | Destabilizing | 0.983 | D | 0.874 | deleterious | None | None | None | None | I |
| G/V | 0.8902 | likely_pathogenic | 0.7308 | pathogenic | -0.439 | Destabilizing | 0.989 | D | 0.865 | deleterious | D | 0.571535888 | None | None | I |
| G/W | 0.9088 | likely_pathogenic | 0.7943 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| G/Y | 0.9077 | likely_pathogenic | 0.7697 | pathogenic | -0.862 | Destabilizing | 0.999 | D | 0.86 | deleterious | None | None | None | None | I |
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.