Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8618 | 26077;26078;26079 | chr2:178715562;178715561;178715560 | chr2:179580289;179580288;179580287 |
| N2AB | 8301 | 25126;25127;25128 | chr2:178715562;178715561;178715560 | chr2:179580289;179580288;179580287 |
| N2A | 7374 | 22345;22346;22347 | chr2:178715562;178715561;178715560 | chr2:179580289;179580288;179580287 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/E | rs369947439  |
-1.317 | 1.0 | D | 0.849 | 0.771 | None | gnomAD-2.1.1 | 4.42E-05 | None | None | None | None | N | None | 0 | 2.03004E-04 | None | 0 | 0 | None | 0 | None | 0 | 3.56E-05 | 0 |
| G/E | rs369947439 |
-1.317 | 1.0 | D | 0.849 | 0.771 | None | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 2.42E-05 | 3.93804E-04 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 4.78927E-04 |
| G/E | rs369947439 |
-1.317 | 1.0 | D | 0.849 | 0.771 | None | gnomAD-4.0.0 | 4.89647E-05 | None | None | None | None | N | None | 1.33586E-05 | 3.0028E-04 | None | 0 | 0 | None | 0 | 0 | 4.66252E-05 | 0 | 8.00641E-05 |
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 | 0.3276 | likely_benign | 0.2912 | benign | -0.813 | Destabilizing | 0.999 | D | 0.764 | deleterious | D | 0.573308744 | None | None | N |
| G/C | 0.789 | likely_pathogenic | 0.6803 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | N |
| G/D | 0.9099 | likely_pathogenic | 0.8088 | pathogenic | -1.152 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| G/E | 0.9324 | likely_pathogenic | 0.85 | pathogenic | -1.204 | Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.659945443 | None | None | N |
| G/F | 0.9788 | likely_pathogenic | 0.9497 | pathogenic | -1.205 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/H | 0.9563 | likely_pathogenic | 0.8966 | pathogenic | -1.296 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| G/I | 0.9705 | likely_pathogenic | 0.9374 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/K | 0.9343 | likely_pathogenic | 0.8538 | pathogenic | -1.142 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/L | 0.9511 | likely_pathogenic | 0.9007 | pathogenic | -0.432 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/M | 0.9588 | likely_pathogenic | 0.9186 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| G/N | 0.9249 | likely_pathogenic | 0.8404 | pathogenic | -0.909 | Destabilizing | 1.0 | D | 0.843 | deleterious | None | None | None | None | N |
| G/P | 0.998 | likely_pathogenic | 0.996 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| G/Q | 0.9056 | likely_pathogenic | 0.8125 | pathogenic | -1.101 | Destabilizing | 1.0 | D | 0.828 | deleterious | None | None | None | None | N |
| G/R | 0.8413 | likely_pathogenic | 0.705 | pathogenic | -0.839 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.659743638 | None | None | N |
| G/S | 0.3651 | ambiguous | 0.2662 | benign | -1.242 | Destabilizing | 1.0 | D | 0.84 | deleterious | None | None | None | None | N |
| G/T | 0.8321 | likely_pathogenic | 0.7223 | pathogenic | -1.203 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/V | 0.9187 | likely_pathogenic | 0.8495 | pathogenic | -0.518 | Destabilizing | 1.0 | D | 0.827 | deleterious | D | 0.643926082 | None | None | N |
| G/W | 0.9593 | likely_pathogenic | 0.8996 | pathogenic | -1.507 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| G/Y | 0.9737 | likely_pathogenic | 0.9362 | pathogenic | -1.094 | Destabilizing | 1.0 | D | 0.795 | 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.