Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10091 | 30496;30497;30498 | chr2:178702616;178702615;178702614 | chr2:179567343;179567342;179567341 |
| N2AB | 9774 | 29545;29546;29547 | chr2:178702616;178702615;178702614 | chr2:179567343;179567342;179567341 |
| N2A | 8847 | 26764;26765;26766 | chr2:178702616;178702615;178702614 | chr2:179567343;179567342;179567341 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/D | rs2075203632  |
None | 0.999 | None | 0.448 | 0.217 | 0.12205267543 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07211E-04 | 0 |
| E/D | rs2075203632 |
None | 0.999 | None | 0.448 | 0.217 | 0.12205267543 | gnomAD-4.0.0 | 3.84252E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.02026E-05 | 0 |
| E/G | None | None | 1.0 | None | 0.619 | 0.43 | 0.248417906384 | 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 |
| E/K | rs2075203983 |
None | 0.999 | None | 0.602 | 0.271 | 0.17258766438 | 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 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| E/A | 0.7891 | likely_pathogenic | 0.7871 | pathogenic | -0.76 | Destabilizing | 0.999 | D | 0.602 | neutral | None | None | None | None | N |
| E/C | 0.9978 | likely_pathogenic | 0.9979 | pathogenic | -0.349 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| E/D | 0.9315 | likely_pathogenic | 0.9214 | pathogenic | -0.922 | Destabilizing | 0.999 | D | 0.448 | neutral | None | None | None | None | N |
| E/F | 0.9985 | likely_pathogenic | 0.9987 | pathogenic | -0.329 | Destabilizing | 1.0 | D | 0.68 | prob.neutral | None | None | None | None | N |
| E/G | 0.888 | likely_pathogenic | 0.8931 | pathogenic | -1.093 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| E/H | 0.9888 | likely_pathogenic | 0.9898 | pathogenic | -0.551 | Destabilizing | 1.0 | D | 0.644 | neutral | None | None | None | None | N |
| E/I | 0.9799 | likely_pathogenic | 0.9806 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.71 | prob.delet. | None | None | None | None | N |
| E/K | 0.8303 | likely_pathogenic | 0.8145 | pathogenic | -0.483 | Destabilizing | 0.999 | D | 0.602 | neutral | None | None | None | None | N |
| E/L | 0.9843 | likely_pathogenic | 0.983 | pathogenic | 0.136 | Stabilizing | 1.0 | D | 0.687 | prob.neutral | None | None | None | None | N |
| E/M | 0.9845 | likely_pathogenic | 0.9844 | pathogenic | 0.522 | Stabilizing | 1.0 | D | 0.65 | neutral | None | None | None | None | N |
| E/N | 0.9738 | likely_pathogenic | 0.9731 | pathogenic | -0.883 | Destabilizing | 1.0 | D | 0.693 | prob.neutral | None | None | None | None | N |
| E/P | 0.94 | likely_pathogenic | 0.9336 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.634 | neutral | None | None | None | None | N |
| E/Q | 0.7299 | likely_pathogenic | 0.7116 | pathogenic | -0.765 | Destabilizing | 1.0 | D | 0.619 | neutral | None | None | None | None | N |
| E/R | 0.9044 | likely_pathogenic | 0.8974 | pathogenic | -0.213 | Destabilizing | 1.0 | D | 0.679 | prob.neutral | None | None | None | None | N |
| E/S | 0.902 | likely_pathogenic | 0.9025 | pathogenic | -1.155 | Destabilizing | 0.999 | D | 0.649 | neutral | None | None | None | None | N |
| E/T | 0.95 | likely_pathogenic | 0.9489 | pathogenic | -0.886 | Destabilizing | 1.0 | D | 0.656 | neutral | None | None | None | None | N |
| E/V | 0.9498 | likely_pathogenic | 0.9454 | pathogenic | -0.141 | Destabilizing | 1.0 | D | 0.675 | neutral | None | None | None | None | N |
| E/W | 0.9994 | likely_pathogenic | 0.9995 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | N |
| E/Y | 0.9967 | likely_pathogenic | 0.997 | pathogenic | -0.095 | Destabilizing | 1.0 | D | 0.667 | neutral | 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.