Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28936 | 87031;87032;87033 | chr2:178559326;178559325;178559324 | chr2:179424053;179424052;179424051 |
| N2AB | 27295 | 82108;82109;82110 | chr2:178559326;178559325;178559324 | chr2:179424053;179424052;179424051 |
| N2A | 26368 | 79327;79328;79329 | chr2:178559326;178559325;178559324 | chr2:179424053;179424052;179424051 |
| N2B | 19871 | 59836;59837;59838 | chr2:178559326;178559325;178559324 | chr2:179424053;179424052;179424051 |
| Novex-1 | 19996 | 60211;60212;60213 | chr2:178559326;178559325;178559324 | chr2:179424053;179424052;179424051 |
| Novex-2 | 20063 | 60412;60413;60414 | chr2:178559326;178559325;178559324 | chr2:179424053;179424052;179424051 |
| 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 | rs749842120  |
-0.9 | 0.999 | N | 0.839 | 0.261 | 0.396044805602 | gnomAD-2.1.1 | 4.26E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9.23E-06 | 0 |
| G/E | rs749842120 |
-0.9 | 0.999 | N | 0.839 | 0.261 | 0.396044805602 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/E | rs749842120 |
-0.9 | 0.999 | N | 0.839 | 0.261 | 0.396044805602 | gnomAD-4.0.0 | 6.91362E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.55779E-06 | 0 | 1.62734E-05 |
| G/R | rs770966722 |
-0.749 | 0.999 | N | 0.863 | 0.315 | 0.52628473709 | gnomAD-2.1.1 | 4.26E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.76E-05 | None | 0 | None | 0 | 0 | 0 |
| G/V | None | None | 0.997 | N | 0.822 | 0.303 | 0.518312163451 | gnomAD-4.0.0 | 2.08492E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.72604E-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 | 0.0962 | likely_benign | 0.1005 | benign | -0.346 | Destabilizing | 0.603 | D | 0.411 | neutral | N | 0.3699605 | None | None | N |
| G/C | 0.3472 | ambiguous | 0.3634 | ambiguous | -0.654 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/D | 0.7777 | likely_pathogenic | 0.7765 | pathogenic | -0.406 | Destabilizing | 0.999 | D | 0.831 | deleterious | None | None | None | None | N |
| G/E | 0.6828 | likely_pathogenic | 0.6931 | pathogenic | -0.494 | Destabilizing | 0.999 | D | 0.839 | deleterious | N | 0.505893507 | None | None | N |
| G/F | 0.8792 | likely_pathogenic | 0.8943 | pathogenic | -0.754 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/H | 0.8716 | likely_pathogenic | 0.8817 | pathogenic | -0.827 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| G/I | 0.4948 | ambiguous | 0.5387 | ambiguous | -0.13 | Destabilizing | 0.999 | D | 0.857 | deleterious | None | None | None | None | N |
| G/K | 0.8981 | likely_pathogenic | 0.9036 | pathogenic | -0.895 | Destabilizing | 0.999 | D | 0.845 | deleterious | None | None | None | None | N |
| G/L | 0.6993 | likely_pathogenic | 0.7438 | pathogenic | -0.13 | Destabilizing | 0.998 | D | 0.837 | deleterious | None | None | None | None | N |
| G/M | 0.6617 | likely_pathogenic | 0.7059 | pathogenic | -0.222 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/N | 0.6982 | likely_pathogenic | 0.726 | pathogenic | -0.543 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| G/P | 0.4972 | ambiguous | 0.5111 | ambiguous | -0.161 | Destabilizing | 0.999 | D | 0.851 | deleterious | None | None | None | None | N |
| G/Q | 0.8011 | likely_pathogenic | 0.8114 | pathogenic | -0.71 | Destabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| G/R | 0.8284 | likely_pathogenic | 0.8305 | pathogenic | -0.597 | Destabilizing | 0.999 | D | 0.863 | deleterious | N | 0.487038387 | None | None | N |
| G/S | 0.1723 | likely_benign | 0.1827 | benign | -0.793 | Destabilizing | 0.987 | D | 0.807 | deleterious | None | None | None | None | N |
| G/T | 0.3071 | likely_benign | 0.3418 | ambiguous | -0.794 | Destabilizing | 0.998 | D | 0.821 | deleterious | None | None | None | None | N |
| G/V | 0.3372 | likely_benign | 0.3656 | ambiguous | -0.161 | Destabilizing | 0.997 | D | 0.822 | deleterious | N | 0.446226341 | None | None | N |
| G/W | 0.7609 | likely_pathogenic | 0.7652 | pathogenic | -1.078 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/Y | 0.7875 | likely_pathogenic | 0.7985 | pathogenic | -0.648 | Destabilizing | 1.0 | D | 0.853 | 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.