Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5744 | 17455;17456;17457 | chr2:178731536;178731535;178731534 | chr2:179596263;179596262;179596261 |
| N2AB | 5427 | 16504;16505;16506 | chr2:178731536;178731535;178731534 | chr2:179596263;179596262;179596261 |
| N2A | 4500 | 13723;13724;13725 | chr2:178731536;178731535;178731534 | chr2:179596263;179596262;179596261 |
| 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/R | rs371788854  |
0.086 | 1.0 | D | 0.797 | 0.801 | 0.852908763123 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/R | rs371788854 |
0.086 | 1.0 | D | 0.797 | 0.801 | 0.852908763123 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| G/R | rs371788854 |
0.086 | 1.0 | D | 0.797 | 0.801 | 0.852908763123 | gnomAD-4.0.0 | 6.84654E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.9986E-07 | 0 | 0 |
| G/V | rs760630120 |
0.173 | 1.0 | D | 0.757 | 0.75 | 0.897311072597 | gnomAD-2.1.1 | 4.04E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.94E-06 | 0 |
| G/V | rs760630120 |
0.173 | 1.0 | D | 0.757 | 0.75 | 0.897311072597 | gnomAD-4.0.0 | 1.59361E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86213E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.3225 | likely_benign | 0.3103 | benign | -0.27 | Destabilizing | 0.949 | D | 0.499 | neutral | D | 0.580795648 | None | None | I |
| G/C | 0.5568 | ambiguous | 0.5143 | ambiguous | -0.881 | Destabilizing | 1.0 | D | 0.769 | deleterious | None | None | None | None | I |
| G/D | 0.3318 | likely_benign | 0.2792 | benign | -0.17 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | I |
| G/E | 0.441 | ambiguous | 0.3937 | ambiguous | -0.327 | Destabilizing | 1.0 | D | 0.786 | deleterious | D | 0.590374615 | None | None | I |
| G/F | 0.8074 | likely_pathogenic | 0.7904 | pathogenic | -0.943 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/H | 0.6385 | likely_pathogenic | 0.606 | pathogenic | -0.489 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | I |
| G/I | 0.7644 | likely_pathogenic | 0.7505 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/K | 0.6857 | likely_pathogenic | 0.6539 | pathogenic | -0.646 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/L | 0.7484 | likely_pathogenic | 0.7517 | pathogenic | -0.406 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | I |
| G/M | 0.7733 | likely_pathogenic | 0.7719 | pathogenic | -0.454 | Destabilizing | 1.0 | D | 0.777 | deleterious | None | None | None | None | I |
| G/N | 0.3906 | ambiguous | 0.373 | ambiguous | -0.342 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| G/P | 0.9772 | likely_pathogenic | 0.9725 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| G/Q | 0.5844 | likely_pathogenic | 0.5427 | ambiguous | -0.596 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/R | 0.5705 | likely_pathogenic | 0.538 | ambiguous | -0.282 | Destabilizing | 1.0 | D | 0.797 | deleterious | D | 0.60800841 | None | None | I |
| G/S | 0.1995 | likely_benign | 0.1935 | benign | -0.552 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | I |
| G/T | 0.4379 | ambiguous | 0.4209 | ambiguous | -0.631 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | I |
| G/V | 0.63 | likely_pathogenic | 0.6136 | pathogenic | -0.328 | Destabilizing | 1.0 | D | 0.757 | deleterious | D | 0.575939328 | None | None | I |
| G/W | 0.6912 | likely_pathogenic | 0.6585 | pathogenic | -1.083 | Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | I |
| G/Y | 0.6749 | likely_pathogenic | 0.6476 | pathogenic | -0.732 | Destabilizing | 1.0 | D | 0.803 | 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.