Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27645 | 83158;83159;83160 | chr2:178563199;178563198;178563197 | chr2:179427926;179427925;179427924 |
| N2AB | 26004 | 78235;78236;78237 | chr2:178563199;178563198;178563197 | chr2:179427926;179427925;179427924 |
| N2A | 25077 | 75454;75455;75456 | chr2:178563199;178563198;178563197 | chr2:179427926;179427925;179427924 |
| N2B | 18580 | 55963;55964;55965 | chr2:178563199;178563198;178563197 | chr2:179427926;179427925;179427924 |
| Novex-1 | 18705 | 56338;56339;56340 | chr2:178563199;178563198;178563197 | chr2:179427926;179427925;179427924 |
| Novex-2 | 18772 | 56539;56540;56541 | chr2:178563199;178563198;178563197 | chr2:179427926;179427925;179427924 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs751318609  |
-1.485 | 1.0 | D | 0.815 | 0.661 | 0.787653998658 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 0 | 5.65E-05 | None | 0 | 5.13E-05 | None | 0 | None | 0 | 7.83E-06 | 0 |
| R/C | rs751318609 |
-1.485 | 1.0 | D | 0.815 | 0.661 | 0.787653998658 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.31148E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| R/C | rs751318609 |
-1.485 | 1.0 | D | 0.815 | 0.661 | 0.787653998658 | gnomAD-4.0.0 | 1.36341E-05 | None | None | None | None | N | None | 0 | 5.00233E-05 | None | 0 | 0 | None | 0 | 6.57678E-04 | 1.01718E-05 | 2.19597E-05 | 1.60128E-05 |
| R/H | rs766522109 |
-2.129 | 1.0 | D | 0.818 | 0.728 | None | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 6.54E-05 | None | 0 | 0 | 0 |
| R/H | rs766522109 |
-2.129 | 1.0 | D | 0.818 | 0.728 | None | 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 |
| R/H | rs766522109 |
-2.129 | 1.0 | D | 0.818 | 0.728 | None | gnomAD-4.0.0 | 9.29586E-06 | None | None | None | None | N | None | 0 | 1.66728E-05 | None | 0 | 0 | None | 1.56196E-05 | 0 | 6.7812E-06 | 3.29388E-05 | 3.20256E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.8218 | likely_pathogenic | 0.8357 | pathogenic | -1.755 | Destabilizing | 0.999 | D | 0.645 | neutral | None | None | None | None | N |
| R/C | 0.2425 | likely_benign | 0.2312 | benign | -1.707 | Destabilizing | 1.0 | D | 0.815 | deleterious | D | 0.547489696 | None | None | N |
| R/D | 0.9759 | likely_pathogenic | 0.9769 | pathogenic | -0.961 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| R/E | 0.789 | likely_pathogenic | 0.8081 | pathogenic | -0.741 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | N |
| R/F | 0.9133 | likely_pathogenic | 0.9142 | pathogenic | -0.931 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| R/G | 0.8117 | likely_pathogenic | 0.8189 | pathogenic | -2.111 | Highly Destabilizing | 1.0 | D | 0.742 | deleterious | D | 0.547236207 | None | None | N |
| R/H | 0.2026 | likely_benign | 0.1883 | benign | -1.974 | Destabilizing | 1.0 | D | 0.818 | deleterious | D | 0.547489696 | None | None | N |
| R/I | 0.6517 | likely_pathogenic | 0.6383 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| R/K | 0.2732 | likely_benign | 0.2912 | benign | -1.196 | Destabilizing | 0.998 | D | 0.658 | neutral | None | None | None | None | N |
| R/L | 0.6163 | likely_pathogenic | 0.6098 | pathogenic | -0.727 | Destabilizing | 1.0 | D | 0.742 | deleterious | N | 0.513256196 | None | None | N |
| R/M | 0.7086 | likely_pathogenic | 0.7124 | pathogenic | -1.25 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| R/N | 0.8828 | likely_pathogenic | 0.8838 | pathogenic | -1.275 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | N |
| R/P | 0.9963 | likely_pathogenic | 0.997 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.809 | deleterious | D | 0.559099491 | None | None | N |
| R/Q | 0.1362 | likely_benign | 0.1418 | benign | -1.079 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| R/S | 0.8286 | likely_pathogenic | 0.8328 | pathogenic | -2.085 | Highly Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.509707343 | None | None | N |
| R/T | 0.731 | likely_pathogenic | 0.7349 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.747 | deleterious | None | None | None | None | N |
| R/V | 0.6945 | likely_pathogenic | 0.7076 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| R/W | 0.5607 | ambiguous | 0.5359 | ambiguous | -0.524 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | N |
| R/Y | 0.7833 | likely_pathogenic | 0.7749 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.836 | 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.