Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20265 | 61018;61019;61020 | chr2:178590932;178590931;178590930 | chr2:179455659;179455658;179455657 |
| N2AB | 18624 | 56095;56096;56097 | chr2:178590932;178590931;178590930 | chr2:179455659;179455658;179455657 |
| N2A | 17697 | 53314;53315;53316 | chr2:178590932;178590931;178590930 | chr2:179455659;179455658;179455657 |
| N2B | 11200 | 33823;33824;33825 | chr2:178590932;178590931;178590930 | chr2:179455659;179455658;179455657 |
| Novex-1 | 11325 | 34198;34199;34200 | chr2:178590932;178590931;178590930 | chr2:179455659;179455658;179455657 |
| Novex-2 | 11392 | 34399;34400;34401 | chr2:178590932;178590931;178590930 | chr2:179455659;179455658;179455657 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/P | rs1228007817  |
-0.574 | 1.0 | N | 0.825 | 0.377 | 0.469082249319 | 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 |
| A/P | rs1228007817 |
-0.574 | 1.0 | N | 0.825 | 0.377 | 0.469082249319 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1228007817 |
-0.574 | 1.0 | N | 0.825 | 0.377 | 0.469082249319 | gnomAD-4.0.0 | 3.84639E-06 | None | None | None | None | N | None | 3.38467E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.3407E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.7644 | likely_pathogenic | 0.7516 | pathogenic | -1.44 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/D | 0.9956 | likely_pathogenic | 0.9959 | pathogenic | -2.561 | Highly Destabilizing | 1.0 | D | 0.867 | deleterious | N | 0.517995321 | None | None | N |
| A/E | 0.9866 | likely_pathogenic | 0.9886 | pathogenic | -2.459 | Highly Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| A/F | 0.9546 | likely_pathogenic | 0.9587 | pathogenic | -0.956 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/G | 0.5867 | likely_pathogenic | 0.6051 | pathogenic | -1.614 | Destabilizing | 0.999 | D | 0.673 | prob.neutral | N | 0.494522241 | None | None | N |
| A/H | 0.9945 | likely_pathogenic | 0.9945 | pathogenic | -1.832 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| A/I | 0.7491 | likely_pathogenic | 0.7592 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.827 | deleterious | None | None | None | None | N |
| A/K | 0.9963 | likely_pathogenic | 0.9963 | pathogenic | -1.421 | Destabilizing | 1.0 | D | 0.815 | deleterious | None | None | None | None | N |
| A/L | 0.6741 | likely_pathogenic | 0.6678 | pathogenic | -0.283 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/M | 0.8257 | likely_pathogenic | 0.8356 | pathogenic | -0.46 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/N | 0.9829 | likely_pathogenic | 0.9843 | pathogenic | -1.545 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | None | None | N |
| A/P | 0.719 | likely_pathogenic | 0.7246 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.825 | deleterious | N | 0.479380501 | None | None | N |
| A/Q | 0.9749 | likely_pathogenic | 0.9771 | pathogenic | -1.54 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/R | 0.9841 | likely_pathogenic | 0.9844 | pathogenic | -1.262 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/S | 0.437 | ambiguous | 0.4549 | ambiguous | -1.892 | Destabilizing | 0.999 | D | 0.704 | prob.delet. | N | 0.489976338 | None | None | N |
| A/T | 0.6896 | likely_pathogenic | 0.709 | pathogenic | -1.693 | Destabilizing | 1.0 | D | 0.832 | deleterious | N | 0.520478957 | None | None | N |
| A/V | 0.5115 | ambiguous | 0.5279 | ambiguous | -0.561 | Destabilizing | 0.999 | D | 0.805 | deleterious | N | 0.511952687 | None | None | N |
| A/W | 0.9958 | likely_pathogenic | 0.9952 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| A/Y | 0.9877 | likely_pathogenic | 0.9882 | pathogenic | -1.109 | Destabilizing | 1.0 | D | 0.859 | 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.