Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 4956 | 15091;15092;15093 | chr2:178735580;178735579;178735578 | chr2:179600307;179600306;179600305 |
| N2AB | 4639 | 14140;14141;14142 | chr2:178735580;178735579;178735578 | chr2:179600307;179600306;179600305 |
| N2A | 3712 | 11359;11360;11361 | chr2:178735580;178735579;178735578 | chr2:179600307;179600306;179600305 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 | rs747180511  |
0.03 | 1.0 | D | 0.818 | 0.731 | None | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 2.68E-05 | 3.33111E-04 |
| G/E | rs747180511 |
0.03 | 1.0 | D | 0.818 | 0.731 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| G/E | rs747180511 |
0.03 | 1.0 | D | 0.818 | 0.731 | None | gnomAD-4.0.0 | 1.05391E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.56406E-05 | 0 | 8.47746E-06 | 2.19945E-05 | 6.40841E-05 |
| G/R | rs768749718 |
-0.129 | 1.0 | D | 0.815 | 0.751 | 0.797950766393 | gnomAD-2.1.1 | 2.02E-05 | None | None | None | None | I | None | 0 | 1.1655E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| G/R | rs768749718 |
-0.129 | 1.0 | D | 0.815 | 0.751 | 0.797950766393 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | I | None | 0 | 1.31062E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/R | rs768749718 |
-0.129 | 1.0 | D | 0.815 | 0.751 | 0.797950766393 | gnomAD-4.0.0 | 2.73824E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59841E-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 | 0.2325 | likely_benign | 0.2821 | benign | -0.743 | Destabilizing | 1.0 | D | 0.782 | deleterious | D | 0.650458397 | None | None | I |
| G/C | 0.6105 | likely_pathogenic | 0.7029 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.753 | deleterious | None | None | None | None | I |
| G/D | 0.7398 | likely_pathogenic | 0.7979 | pathogenic | -0.969 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/E | 0.8371 | likely_pathogenic | 0.8849 | pathogenic | -1.06 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.83535367 | None | None | I |
| G/F | 0.9479 | likely_pathogenic | 0.9666 | pathogenic | -1.286 | Destabilizing | 1.0 | D | 0.76 | deleterious | None | None | None | None | I |
| G/H | 0.8916 | likely_pathogenic | 0.9262 | pathogenic | -1.165 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | I |
| G/I | 0.9099 | likely_pathogenic | 0.9439 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | I |
| G/K | 0.8894 | likely_pathogenic | 0.9188 | pathogenic | -1.036 | Destabilizing | 1.0 | D | 0.818 | deleterious | None | None | None | None | I |
| G/L | 0.8942 | likely_pathogenic | 0.9303 | pathogenic | -0.527 | Destabilizing | 1.0 | D | 0.763 | deleterious | None | None | None | None | I |
| G/M | 0.9123 | likely_pathogenic | 0.9444 | pathogenic | -0.443 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | I |
| G/N | 0.7563 | likely_pathogenic | 0.824 | pathogenic | -0.756 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | I |
| G/P | 0.9919 | likely_pathogenic | 0.9952 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.807 | deleterious | None | None | None | None | I |
| G/Q | 0.8138 | likely_pathogenic | 0.8657 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | I |
| G/R | 0.7623 | likely_pathogenic | 0.8165 | pathogenic | -0.696 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.835302606 | None | None | I |
| G/S | 0.2108 | likely_benign | 0.2645 | benign | -1.045 | Destabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | I |
| G/T | 0.6595 | likely_pathogenic | 0.7588 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/V | 0.8125 | likely_pathogenic | 0.8759 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.771 | deleterious | D | 0.83535367 | None | None | I |
| G/W | 0.9202 | likely_pathogenic | 0.9504 | pathogenic | -1.518 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | None | None | I |
| G/Y | 0.9202 | likely_pathogenic | 0.9535 | pathogenic | -1.124 | Destabilizing | 1.0 | D | 0.75 | deleterious | None | None | None | None | I |
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.