Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26388 | 79387;79388;79389 | chr2:178566970;178566969;178566968 | chr2:179431697;179431696;179431695 |
| N2AB | 24747 | 74464;74465;74466 | chr2:178566970;178566969;178566968 | chr2:179431697;179431696;179431695 |
| N2A | 23820 | 71683;71684;71685 | chr2:178566970;178566969;178566968 | chr2:179431697;179431696;179431695 |
| N2B | 17323 | 52192;52193;52194 | chr2:178566970;178566969;178566968 | chr2:179431697;179431696;179431695 |
| Novex-1 | 17448 | 52567;52568;52569 | chr2:178566970;178566969;178566968 | chr2:179431697;179431696;179431695 |
| Novex-2 | 17515 | 52768;52769;52770 | chr2:178566970;178566969;178566968 | chr2:179431697;179431696;179431695 |
| 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 | None | None | 0.999 | N | 0.821 | 0.352 | 0.473774312618 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.93751E-06 | 0 | 0 |
| G/R | rs763822931  |
-0.532 | 0.999 | N | 0.849 | 0.415 | 0.613362904753 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| G/R | rs763822931 |
-0.532 | 0.999 | N | 0.849 | 0.415 | 0.613362904753 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| G/R | rs763822931 |
-0.532 | 0.999 | N | 0.849 | 0.415 | 0.613362904753 | gnomAD-4.0.0 | 4.95833E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.78156E-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 | 0.1852 | likely_benign | 0.2227 | benign | -0.775 | Destabilizing | 0.991 | D | 0.601 | neutral | N | 0.487622934 | None | None | N |
| G/C | 0.3017 | likely_benign | 0.352 | ambiguous | -1.305 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| G/D | 0.3932 | ambiguous | 0.4095 | ambiguous | -2.137 | Highly Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| G/E | 0.4619 | ambiguous | 0.4908 | ambiguous | -2.187 | Highly Destabilizing | 0.999 | D | 0.821 | deleterious | N | 0.507435483 | None | None | N |
| G/F | 0.7692 | likely_pathogenic | 0.7855 | pathogenic | -1.227 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| G/H | 0.668 | likely_pathogenic | 0.7043 | pathogenic | -1.194 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | N |
| G/I | 0.6723 | likely_pathogenic | 0.6954 | pathogenic | -0.464 | Destabilizing | 1.0 | D | 0.844 | deleterious | None | None | None | None | N |
| G/K | 0.7655 | likely_pathogenic | 0.7827 | pathogenic | -1.21 | Destabilizing | 0.999 | D | 0.821 | deleterious | None | None | None | None | N |
| G/L | 0.5197 | ambiguous | 0.561 | ambiguous | -0.464 | Destabilizing | 0.998 | D | 0.83 | deleterious | None | None | None | None | N |
| G/M | 0.6576 | likely_pathogenic | 0.6917 | pathogenic | -0.491 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| G/N | 0.5045 | ambiguous | 0.515 | ambiguous | -1.121 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| G/P | 0.9672 | likely_pathogenic | 0.9642 | pathogenic | -0.531 | Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| G/Q | 0.6075 | likely_pathogenic | 0.6394 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| G/R | 0.691 | likely_pathogenic | 0.7259 | pathogenic | -0.861 | Destabilizing | 0.999 | D | 0.849 | deleterious | N | 0.50246196 | None | None | N |
| G/S | 0.1202 | likely_benign | 0.1461 | benign | -1.268 | Destabilizing | 0.998 | D | 0.737 | prob.delet. | None | None | None | None | N |
| G/T | 0.2846 | likely_benign | 0.3399 | benign | -1.26 | Destabilizing | 0.952 | D | 0.548 | neutral | None | None | None | None | N |
| G/V | 0.5053 | ambiguous | 0.545 | ambiguous | -0.531 | Destabilizing | 0.997 | D | 0.818 | deleterious | N | 0.514325244 | None | None | N |
| G/W | 0.727 | likely_pathogenic | 0.7574 | pathogenic | -1.55 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| G/Y | 0.6594 | likely_pathogenic | 0.6817 | pathogenic | -1.131 | Destabilizing | 1.0 | D | 0.841 | 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.