Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33566 | 100921;100922;100923 | chr2:178536051;178536050;178536049 | chr2:179400778;179400777;179400776 |
| N2AB | 31925 | 95998;95999;96000 | chr2:178536051;178536050;178536049 | chr2:179400778;179400777;179400776 |
| N2A | 30998 | 93217;93218;93219 | chr2:178536051;178536050;178536049 | chr2:179400778;179400777;179400776 |
| N2B | 24501 | 73726;73727;73728 | chr2:178536051;178536050;178536049 | chr2:179400778;179400777;179400776 |
| Novex-1 | 24626 | 74101;74102;74103 | chr2:178536051;178536050;178536049 | chr2:179400778;179400777;179400776 |
| Novex-2 | 24693 | 74302;74303;74304 | chr2:178536051;178536050;178536049 | chr2:179400778;179400777;179400776 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs878854282  |
-1.185 | 0.989 | N | 0.783 | 0.343 | 0.222439326576 | gnomAD-2.1.1 | 1.26E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.78E-05 | 0 |
| T/A | rs878854282 |
-1.185 | 0.989 | N | 0.783 | 0.343 | 0.222439326576 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/A | rs878854282 |
-1.185 | 0.989 | N | 0.783 | 0.343 | 0.222439326576 | gnomAD-4.0.0 | 1.94301E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 1.57973E-05 | 0 | 2.56752E-05 | 0 | 0 |
| T/I | rs779057126 |
-0.13 | 1.0 | N | 0.821 | 0.518 | 0.597456354548 | gnomAD-2.1.1 | 4.62E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.87109E-04 | None | 0 | 2.78E-05 | 0 |
| T/I | rs779057126 |
-0.13 | 1.0 | N | 0.821 | 0.518 | 0.597456354548 | gnomAD-4.0.0 | 2.28703E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 5.28914E-04 | 8.18017E-06 | 2.15796E-04 | 5.04168E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0976 | likely_benign | 0.0919 | benign | -1.115 | Destabilizing | 0.989 | D | 0.783 | deleterious | N | 0.403764508 | None | None | N |
| T/C | 0.5452 | ambiguous | 0.5539 | ambiguous | -0.686 | Destabilizing | 1.0 | D | 0.783 | deleterious | None | None | None | None | N |
| T/D | 0.75 | likely_pathogenic | 0.6751 | pathogenic | -0.433 | Destabilizing | 0.999 | D | 0.839 | deleterious | None | None | None | None | N |
| T/E | 0.7426 | likely_pathogenic | 0.6764 | pathogenic | -0.359 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| T/F | 0.7243 | likely_pathogenic | 0.691 | pathogenic | -1.014 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | N |
| T/G | 0.2801 | likely_benign | 0.2328 | benign | -1.441 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| T/H | 0.6965 | likely_pathogenic | 0.6642 | pathogenic | -1.586 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| T/I | 0.64 | likely_pathogenic | 0.5844 | pathogenic | -0.309 | Destabilizing | 1.0 | D | 0.821 | deleterious | N | 0.516492581 | None | None | N |
| T/K | 0.681 | likely_pathogenic | 0.6283 | pathogenic | -0.657 | Destabilizing | 1.0 | D | 0.837 | deleterious | N | 0.497386746 | None | None | N |
| T/L | 0.286 | likely_benign | 0.2589 | benign | -0.309 | Destabilizing | 0.999 | D | 0.813 | deleterious | None | None | None | None | N |
| T/M | 0.1562 | likely_benign | 0.1613 | benign | -0.09 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| T/N | 0.3326 | likely_benign | 0.2946 | benign | -0.846 | Destabilizing | 0.999 | D | 0.865 | deleterious | None | None | None | None | N |
| T/P | 0.8542 | likely_pathogenic | 0.7733 | pathogenic | -0.545 | Destabilizing | 0.999 | D | 0.825 | deleterious | N | 0.516319223 | None | None | N |
| T/Q | 0.5747 | likely_pathogenic | 0.5353 | ambiguous | -0.894 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| T/R | 0.5997 | likely_pathogenic | 0.5531 | ambiguous | -0.539 | Destabilizing | 1.0 | D | 0.824 | deleterious | N | 0.516319223 | None | None | N |
| T/S | 0.1674 | likely_benign | 0.1637 | benign | -1.189 | Destabilizing | 0.989 | D | 0.817 | deleterious | N | 0.497213387 | None | None | N |
| T/V | 0.3779 | ambiguous | 0.3632 | ambiguous | -0.545 | Destabilizing | 0.999 | D | 0.809 | deleterious | None | None | None | None | N |
| T/W | 0.9536 | likely_pathogenic | 0.9446 | pathogenic | -0.942 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| T/Y | 0.8132 | likely_pathogenic | 0.7717 | pathogenic | -0.684 | Destabilizing | 1.0 | D | 0.823 | 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.