Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33763 | 101512;101513;101514 | chr2:178535328;178535327;178535326 | chr2:179400055;179400054;179400053 |
| N2AB | 32122 | 96589;96590;96591 | chr2:178535328;178535327;178535326 | chr2:179400055;179400054;179400053 |
| N2A | 31195 | 93808;93809;93810 | chr2:178535328;178535327;178535326 | chr2:179400055;179400054;179400053 |
| N2B | 24698 | 74317;74318;74319 | chr2:178535328;178535327;178535326 | chr2:179400055;179400054;179400053 |
| Novex-1 | 24823 | 74692;74693;74694 | chr2:178535328;178535327;178535326 | chr2:179400055;179400054;179400053 |
| Novex-2 | 24890 | 74893;74894;74895 | chr2:178535328;178535327;178535326 | chr2:179400055;179400054;179400053 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/T | rs1180167121  |
-2.965 | 0.992 | N | 0.753 | 0.459 | 0.658352620329 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| I/T | rs1180167121 |
-2.965 | 0.992 | N | 0.753 | 0.459 | 0.658352620329 | gnomAD-4.0.0 | 6.8418E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.51902E-05 | None | 0 | 0 | 8.09485E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| I/A | 0.6156 | likely_pathogenic | 0.7443 | pathogenic | -2.91 | Highly Destabilizing | 0.998 | D | 0.715 | prob.delet. | None | None | None | None | N |
| I/C | 0.8422 | likely_pathogenic | 0.9105 | pathogenic | -2.231 | Highly Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | N |
| I/D | 0.9843 | likely_pathogenic | 0.9919 | pathogenic | -3.42 | Highly Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| I/E | 0.9218 | likely_pathogenic | 0.9571 | pathogenic | -3.228 | Highly Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | N |
| I/F | 0.3423 | ambiguous | 0.3933 | ambiguous | -1.727 | Destabilizing | 0.999 | D | 0.761 | deleterious | None | None | None | None | N |
| I/G | 0.9446 | likely_pathogenic | 0.975 | pathogenic | -3.388 | Highly Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| I/H | 0.8751 | likely_pathogenic | 0.9277 | pathogenic | -2.698 | Highly Destabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| I/K | 0.7669 | likely_pathogenic | 0.8868 | pathogenic | -2.289 | Highly Destabilizing | 0.989 | D | 0.803 | deleterious | N | 0.424933922 | None | None | N |
| I/L | 0.2231 | likely_benign | 0.2682 | benign | -1.523 | Destabilizing | 0.53 | D | 0.512 | neutral | N | 0.465300465 | None | None | N |
| I/M | 0.1357 | likely_benign | 0.1632 | benign | -1.563 | Destabilizing | 0.913 | D | 0.535 | neutral | N | 0.489409475 | None | None | N |
| I/N | 0.8072 | likely_pathogenic | 0.8785 | pathogenic | -2.584 | Highly Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| I/P | 0.9973 | likely_pathogenic | 0.9987 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| I/Q | 0.7883 | likely_pathogenic | 0.8822 | pathogenic | -2.512 | Highly Destabilizing | 0.999 | D | 0.849 | deleterious | None | None | None | None | N |
| I/R | 0.63 | likely_pathogenic | 0.8093 | pathogenic | -1.845 | Destabilizing | 0.999 | D | 0.833 | deleterious | N | 0.427819512 | None | None | N |
| I/S | 0.6604 | likely_pathogenic | 0.7633 | pathogenic | -3.197 | Highly Destabilizing | 1.0 | D | 0.752 | deleterious | None | None | None | None | N |
| I/T | 0.3476 | ambiguous | 0.4708 | ambiguous | -2.885 | Highly Destabilizing | 0.992 | D | 0.753 | deleterious | N | 0.46478039 | None | None | N |
| I/V | 0.1146 | likely_benign | 0.1388 | benign | -1.97 | Destabilizing | 0.085 | N | 0.269 | neutral | N | 0.450139011 | None | None | N |
| I/W | 0.9259 | likely_pathogenic | 0.9471 | pathogenic | -2.086 | Highly Destabilizing | 1.0 | D | 0.798 | deleterious | None | None | None | None | N |
| I/Y | 0.7979 | likely_pathogenic | 0.8476 | pathogenic | -1.905 | Destabilizing | 0.998 | D | 0.8 | 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.