Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 1107 | 3544;3545;3546 | chr2:178782273;178782272;178782271 | chr2:179647000;179646999;179646998 |
| N2AB | 1107 | 3544;3545;3546 | chr2:178782273;178782272;178782271 | chr2:179647000;179646999;179646998 |
| N2A | 1107 | 3544;3545;3546 | chr2:178782273;178782272;178782271 | chr2:179647000;179646999;179646998 |
| N2B | 1061 | 3406;3407;3408 | chr2:178782273;178782272;178782271 | chr2:179647000;179646999;179646998 |
| Novex-1 | 1061 | 3406;3407;3408 | chr2:178782273;178782272;178782271 | chr2:179647000;179646999;179646998 |
| Novex-2 | 1061 | 3406;3407;3408 | chr2:178782273;178782272;178782271 | chr2:179647000;179646999;179646998 |
| Novex-3 | 1107 | 3544;3545;3546 | chr2:178782273;178782272;178782271 | chr2:179647000;179646999;179646998 |
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/S | rs767741769  |
-0.654 | 1.0 | D | 0.837 | 0.731 | 0.600369781234 | gnomAD-2.1.1 | 2.83E-05 | None | None | None | None | I | None | 4.01E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 4.66E-05 | 1.38581E-04 |
| G/S | rs767741769 |
-0.654 | 1.0 | D | 0.837 | 0.731 | 0.600369781234 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | I | None | 7.24E-05 | 1.31079E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| G/S | rs767741769 |
-0.654 | 1.0 | D | 0.837 | 0.731 | 0.600369781234 | gnomAD-4.0.0 | 1.36311E-05 | None | None | None | None | I | None | 5.34117E-05 | 5.0015E-05 | None | 0 | 0 | None | 0 | 1.64366E-04 | 1.10168E-05 | 0 | 1.60041E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.8782 | likely_pathogenic | 0.8779 | pathogenic | -0.666 | Destabilizing | 1.0 | D | 0.774 | deleterious | D | 0.573917185 | None | None | I |
| G/C | 0.9743 | likely_pathogenic | 0.9789 | pathogenic | -0.561 | Destabilizing | 1.0 | D | 0.724 | prob.delet. | D | 0.739513245 | None | None | I |
| G/D | 0.9955 | likely_pathogenic | 0.9953 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.797182506 | None | None | I |
| G/E | 0.9962 | likely_pathogenic | 0.9963 | pathogenic | -1.33 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/F | 0.996 | likely_pathogenic | 0.9971 | pathogenic | -1.041 | Destabilizing | 1.0 | D | 0.785 | deleterious | None | None | None | None | I |
| G/H | 0.9989 | likely_pathogenic | 0.9991 | pathogenic | -1.406 | Destabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | I |
| G/I | 0.9894 | likely_pathogenic | 0.9922 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | I |
| G/K | 0.9986 | likely_pathogenic | 0.9988 | pathogenic | -1.343 | Destabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | I |
| G/L | 0.9951 | likely_pathogenic | 0.9959 | pathogenic | -0.351 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| G/M | 0.9973 | likely_pathogenic | 0.9977 | pathogenic | -0.177 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | I |
| G/N | 0.996 | likely_pathogenic | 0.9966 | pathogenic | -0.851 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | I |
| G/P | 0.9993 | likely_pathogenic | 0.9994 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.821 | deleterious | None | None | None | None | I |
| G/Q | 0.9973 | likely_pathogenic | 0.9976 | pathogenic | -1.046 | Destabilizing | 1.0 | D | 0.816 | deleterious | None | None | None | None | I |
| G/R | 0.995 | likely_pathogenic | 0.9956 | pathogenic | -0.987 | Destabilizing | 1.0 | D | 0.823 | deleterious | D | 0.739661139 | None | None | I |
| G/S | 0.8705 | likely_pathogenic | 0.89 | pathogenic | -1.005 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.643760952 | None | None | I |
| G/T | 0.9791 | likely_pathogenic | 0.9841 | pathogenic | -1.016 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | I |
| G/V | 0.9805 | likely_pathogenic | 0.9847 | pathogenic | -0.417 | Destabilizing | 1.0 | D | 0.82 | deleterious | D | 0.76123653 | None | None | I |
| G/W | 0.9936 | likely_pathogenic | 0.995 | pathogenic | -1.439 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | I |
| G/Y | 0.9974 | likely_pathogenic | 0.998 | pathogenic | -1.04 | Destabilizing | 1.0 | D | 0.772 | 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.