Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19547 | 58864;58865;58866 | chr2:178593661;178593660;178593659 | chr2:179458388;179458387;179458386 |
| N2AB | 17906 | 53941;53942;53943 | chr2:178593661;178593660;178593659 | chr2:179458388;179458387;179458386 |
| N2A | 16979 | 51160;51161;51162 | chr2:178593661;178593660;178593659 | chr2:179458388;179458387;179458386 |
| N2B | 10482 | 31669;31670;31671 | chr2:178593661;178593660;178593659 | chr2:179458388;179458387;179458386 |
| Novex-1 | 10607 | 32044;32045;32046 | chr2:178593661;178593660;178593659 | chr2:179458388;179458387;179458386 |
| Novex-2 | 10674 | 32245;32246;32247 | chr2:178593661;178593660;178593659 | chr2:179458388;179458387;179458386 |
| 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 | rs374713701  |
-1.185 | 1.0 | N | 0.858 | 0.634 | None | gnomAD-2.1.1 | 8.07E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/E | rs374713701 |
-1.185 | 1.0 | N | 0.858 | 0.634 | None | gnomAD-4.0.0 | 1.57427E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.06912E-05 | 0 | 0 |
| G/R | rs886055260 |
None | 1.0 | N | 0.851 | 0.625 | 0.498259528926 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| G/V | rs374713701 |
-0.388 | 1.0 | D | 0.841 | 0.588 | None | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| G/V | rs374713701 |
-0.388 | 1.0 | D | 0.841 | 0.588 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/V | rs374713701 |
-0.388 | 1.0 | D | 0.841 | 0.588 | None | gnomAD-4.0.0 | 2.6303E-05 | None | None | None | None | N | None | 9.65391E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 | 0.5925 | likely_pathogenic | 0.5565 | ambiguous | -0.593 | Destabilizing | 1.0 | D | 0.713 | prob.delet. | N | 0.475886052 | None | None | N |
| G/C | 0.6292 | likely_pathogenic | 0.6109 | pathogenic | -0.83 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/D | 0.2783 | likely_benign | 0.2715 | benign | -1.324 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | N |
| G/E | 0.4679 | ambiguous | 0.4496 | ambiguous | -1.466 | Destabilizing | 1.0 | D | 0.858 | deleterious | N | 0.50090284 | None | None | N |
| G/F | 0.9125 | likely_pathogenic | 0.9059 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| G/H | 0.7507 | likely_pathogenic | 0.7411 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| G/I | 0.9201 | likely_pathogenic | 0.9137 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| G/K | 0.8257 | likely_pathogenic | 0.833 | pathogenic | -1.337 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/L | 0.8882 | likely_pathogenic | 0.8772 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| G/M | 0.8801 | likely_pathogenic | 0.87 | pathogenic | -0.403 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| G/N | 0.3336 | likely_benign | 0.3127 | benign | -0.854 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| G/P | 0.9941 | likely_pathogenic | 0.9932 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| G/Q | 0.6794 | likely_pathogenic | 0.6642 | pathogenic | -1.175 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| G/R | 0.7635 | likely_pathogenic | 0.7753 | pathogenic | -0.785 | Destabilizing | 1.0 | D | 0.851 | deleterious | N | 0.51088002 | None | None | N |
| G/S | 0.2691 | likely_benign | 0.24 | benign | -0.945 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| G/T | 0.624 | likely_pathogenic | 0.5973 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| G/V | 0.8451 | likely_pathogenic | 0.8355 | pathogenic | -0.53 | Destabilizing | 1.0 | D | 0.841 | deleterious | D | 0.534517684 | None | None | N |
| G/W | 0.7855 | likely_pathogenic | 0.7887 | pathogenic | -1.394 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| G/Y | 0.7783 | likely_pathogenic | 0.7626 | pathogenic | -1.069 | Destabilizing | 1.0 | D | 0.807 | 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.