Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22846 | 68761;68762;68763 | chr2:178577890;178577889;178577888 | chr2:179442617;179442616;179442615 |
| N2AB | 21205 | 63838;63839;63840 | chr2:178577890;178577889;178577888 | chr2:179442617;179442616;179442615 |
| N2A | 20278 | 61057;61058;61059 | chr2:178577890;178577889;178577888 | chr2:179442617;179442616;179442615 |
| N2B | 13781 | 41566;41567;41568 | chr2:178577890;178577889;178577888 | chr2:179442617;179442616;179442615 |
| Novex-1 | 13906 | 41941;41942;41943 | chr2:178577890;178577889;178577888 | chr2:179442617;179442616;179442615 |
| Novex-2 | 13973 | 42142;42143;42144 | chr2:178577890;178577889;178577888 | chr2:179442617;179442616;179442615 |
| 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/A | rs757698964  |
-0.414 | 1.0 | N | 0.616 | 0.457 | None | gnomAD-2.1.1 | 4.5E-06 | None | None | None | None | N | None | 6.64E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/A | rs757698964 |
-0.414 | 1.0 | N | 0.616 | 0.457 | None | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/A | rs757698964 |
-0.414 | 1.0 | N | 0.616 | 0.457 | None | gnomAD-4.0.0 | 6.57575E-06 | None | None | None | None | N | None | 2.41266E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.4444 | ambiguous | 0.4534 | ambiguous | -0.79 | Destabilizing | 1.0 | D | 0.616 | neutral | N | 0.493841133 | None | None | N |
| G/C | 0.6804 | likely_pathogenic | 0.6534 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| G/D | 0.7873 | likely_pathogenic | 0.7952 | pathogenic | -1.859 | Destabilizing | 1.0 | D | 0.767 | deleterious | None | None | None | None | N |
| G/E | 0.7173 | likely_pathogenic | 0.733 | pathogenic | -1.816 | Destabilizing | 1.0 | D | 0.812 | deleterious | N | 0.4802791 | None | None | N |
| G/F | 0.9594 | likely_pathogenic | 0.9554 | pathogenic | -0.923 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| G/H | 0.9044 | likely_pathogenic | 0.9047 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| G/I | 0.9126 | likely_pathogenic | 0.9002 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| G/K | 0.8638 | likely_pathogenic | 0.8666 | pathogenic | -1.426 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| G/L | 0.8785 | likely_pathogenic | 0.8748 | pathogenic | -0.064 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| G/M | 0.8937 | likely_pathogenic | 0.8945 | pathogenic | -0.13 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| G/N | 0.8111 | likely_pathogenic | 0.8207 | pathogenic | -1.282 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| G/P | 0.9877 | likely_pathogenic | 0.9853 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| G/Q | 0.7337 | likely_pathogenic | 0.7505 | pathogenic | -1.31 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/R | 0.7611 | likely_pathogenic | 0.7571 | pathogenic | -1.318 | Destabilizing | 1.0 | D | 0.799 | deleterious | N | 0.498966013 | None | None | N |
| G/S | 0.2635 | likely_benign | 0.2739 | benign | -1.539 | Destabilizing | 1.0 | D | 0.671 | neutral | None | None | None | None | N |
| G/T | 0.5689 | likely_pathogenic | 0.5613 | ambiguous | -1.406 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/V | 0.8141 | likely_pathogenic | 0.791 | pathogenic | -0.262 | Destabilizing | 1.0 | D | 0.813 | deleterious | N | 0.488765478 | None | None | N |
| G/W | 0.9369 | likely_pathogenic | 0.9293 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| G/Y | 0.9371 | likely_pathogenic | 0.9297 | pathogenic | -1.027 | Destabilizing | 1.0 | D | 0.791 | 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.