Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22924 | 68995;68996;68997 | chr2:178577656;178577655;178577654 | chr2:179442383;179442382;179442381 |
| N2AB | 21283 | 64072;64073;64074 | chr2:178577656;178577655;178577654 | chr2:179442383;179442382;179442381 |
| N2A | 20356 | 61291;61292;61293 | chr2:178577656;178577655;178577654 | chr2:179442383;179442382;179442381 |
| N2B | 13859 | 41800;41801;41802 | chr2:178577656;178577655;178577654 | chr2:179442383;179442382;179442381 |
| Novex-1 | 13984 | 42175;42176;42177 | chr2:178577656;178577655;178577654 | chr2:179442383;179442382;179442381 |
| Novex-2 | 14051 | 42376;42377;42378 | chr2:178577656;178577655;178577654 | chr2:179442383;179442382;179442381 |
| 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/G | rs1233193940  |
-0.533 | 0.958 | N | 0.538 | 0.285 | 0.443999229985 | gnomAD-2.1.1 | 6.38E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 5.77367E-04 | 0 | 0 |
| A/G | rs1233193940 |
-0.533 | 0.958 | N | 0.538 | 0.285 | 0.443999229985 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 1.88857E-04 | 0 | 0 | 0 | 0 |
| A/G | rs1233193940 |
-0.533 | 0.958 | N | 0.538 | 0.285 | 0.443999229985 | gnomAD-4.0.0 | 1.31562E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 1.88857E-04 | 0 | 0 | 0 | 0 |
| A/T | None | None | 0.958 | N | 0.751 | 0.257 | 0.450539155747 | gnomAD-4.0.0 | 1.59294E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86041E-06 | 0 | 0 |
| A/V | None | None | 0.979 | N | 0.738 | 0.314 | 0.497871611283 | gnomAD-4.0.0 | 1.59303E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02645E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5949 | likely_pathogenic | 0.5696 | pathogenic | -0.855 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| A/D | 0.8036 | likely_pathogenic | 0.7754 | pathogenic | -0.255 | Destabilizing | 0.142 | N | 0.379 | neutral | N | 0.519490027 | None | None | I |
| A/E | 0.7393 | likely_pathogenic | 0.6953 | pathogenic | -0.364 | Destabilizing | 0.938 | D | 0.68 | prob.neutral | None | None | None | None | I |
| A/F | 0.535 | ambiguous | 0.5055 | ambiguous | -0.915 | Destabilizing | 0.998 | D | 0.836 | deleterious | None | None | None | None | I |
| A/G | 0.3056 | likely_benign | 0.2538 | benign | -0.706 | Destabilizing | 0.958 | D | 0.538 | neutral | N | 0.485244575 | None | None | I |
| A/H | 0.7566 | likely_pathogenic | 0.7194 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | I |
| A/I | 0.4575 | ambiguous | 0.4268 | ambiguous | -0.394 | Destabilizing | 0.995 | D | 0.779 | deleterious | None | None | None | None | I |
| A/K | 0.8534 | likely_pathogenic | 0.8118 | pathogenic | -0.698 | Destabilizing | 0.991 | D | 0.754 | deleterious | None | None | None | None | I |
| A/L | 0.3871 | ambiguous | 0.3556 | ambiguous | -0.394 | Destabilizing | 0.995 | D | 0.754 | deleterious | None | None | None | None | I |
| A/M | 0.3994 | ambiguous | 0.362 | ambiguous | -0.413 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| A/N | 0.5072 | ambiguous | 0.484 | ambiguous | -0.401 | Destabilizing | 0.982 | D | 0.802 | deleterious | None | None | None | None | I |
| A/P | 0.9584 | likely_pathogenic | 0.95 | pathogenic | -0.415 | Destabilizing | 0.994 | D | 0.781 | deleterious | N | 0.486993607 | None | None | I |
| A/Q | 0.6339 | likely_pathogenic | 0.5843 | pathogenic | -0.641 | Destabilizing | 0.995 | D | 0.799 | deleterious | None | None | None | None | I |
| A/R | 0.7684 | likely_pathogenic | 0.7212 | pathogenic | -0.314 | Destabilizing | 0.995 | D | 0.787 | deleterious | None | None | None | None | I |
| A/S | 0.1471 | likely_benign | 0.1302 | benign | -0.761 | Destabilizing | 0.958 | D | 0.522 | neutral | N | 0.481585 | None | None | I |
| A/T | 0.1721 | likely_benign | 0.1504 | benign | -0.778 | Destabilizing | 0.958 | D | 0.751 | deleterious | N | 0.492130068 | None | None | I |
| A/V | 0.2504 | likely_benign | 0.2297 | benign | -0.415 | Destabilizing | 0.979 | D | 0.738 | prob.delet. | N | 0.42128869 | None | None | I |
| A/W | 0.9212 | likely_pathogenic | 0.9087 | pathogenic | -1.065 | Destabilizing | 1.0 | D | 0.858 | deleterious | None | None | None | None | I |
| A/Y | 0.7066 | likely_pathogenic | 0.6818 | pathogenic | -0.702 | Destabilizing | 1.0 | D | 0.83 | 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.