Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28251 | 84976;84977;84978 | chr2:178561381;178561380;178561379 | chr2:179426108;179426107;179426106 |
| N2AB | 26610 | 80053;80054;80055 | chr2:178561381;178561380;178561379 | chr2:179426108;179426107;179426106 |
| N2A | 25683 | 77272;77273;77274 | chr2:178561381;178561380;178561379 | chr2:179426108;179426107;179426106 |
| N2B | 19186 | 57781;57782;57783 | chr2:178561381;178561380;178561379 | chr2:179426108;179426107;179426106 |
| Novex-1 | 19311 | 58156;58157;58158 | chr2:178561381;178561380;178561379 | chr2:179426108;179426107;179426106 |
| Novex-2 | 19378 | 58357;58358;58359 | chr2:178561381;178561380;178561379 | chr2:179426108;179426107;179426106 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/E | None | None | 0.999 | N | 0.489 | 0.203 | 0.27855597813 | 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 |
| D/N | None | None | 1.0 | N | 0.793 | 0.368 | 0.418964662724 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.8097 | likely_pathogenic | 0.8103 | pathogenic | -0.202 | Destabilizing | 1.0 | D | 0.755 | deleterious | N | 0.488233543 | None | None | N |
| D/C | 0.9772 | likely_pathogenic | 0.976 | pathogenic | 0.018 | Stabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| D/E | 0.766 | likely_pathogenic | 0.7993 | pathogenic | -0.298 | Destabilizing | 0.999 | D | 0.489 | neutral | N | 0.501173238 | None | None | N |
| D/F | 0.9498 | likely_pathogenic | 0.9567 | pathogenic | -0.254 | Destabilizing | 1.0 | D | 0.838 | deleterious | None | None | None | None | N |
| D/G | 0.8801 | likely_pathogenic | 0.8789 | pathogenic | -0.366 | Destabilizing | 1.0 | D | 0.797 | deleterious | N | 0.502921211 | None | None | N |
| D/H | 0.8721 | likely_pathogenic | 0.8741 | pathogenic | None | Stabilizing | 1.0 | D | 0.898 | deleterious | N | 0.512658128 | None | None | N |
| D/I | 0.9273 | likely_pathogenic | 0.9459 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| D/K | 0.9662 | likely_pathogenic | 0.9738 | pathogenic | 0.29 | Stabilizing | 1.0 | D | 0.845 | deleterious | None | None | None | None | N |
| D/L | 0.8714 | likely_pathogenic | 0.8928 | pathogenic | 0.175 | Stabilizing | 1.0 | D | 0.817 | deleterious | None | None | None | None | N |
| D/M | 0.9658 | likely_pathogenic | 0.9727 | pathogenic | 0.228 | Stabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| D/N | 0.4398 | ambiguous | 0.4306 | ambiguous | 0.099 | Stabilizing | 1.0 | D | 0.793 | deleterious | N | 0.496755919 | None | None | N |
| D/P | 0.9783 | likely_pathogenic | 0.9834 | pathogenic | 0.07 | Stabilizing | 1.0 | D | 0.839 | deleterious | None | None | None | None | N |
| D/Q | 0.9348 | likely_pathogenic | 0.9472 | pathogenic | 0.11 | Stabilizing | 1.0 | D | 0.852 | deleterious | None | None | None | None | N |
| D/R | 0.9707 | likely_pathogenic | 0.977 | pathogenic | 0.458 | Stabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| D/S | 0.5965 | likely_pathogenic | 0.593 | pathogenic | -0.012 | Destabilizing | 1.0 | D | 0.8 | deleterious | None | None | None | None | N |
| D/T | 0.8938 | likely_pathogenic | 0.9058 | pathogenic | 0.11 | Stabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| D/V | 0.86 | likely_pathogenic | 0.8886 | pathogenic | 0.07 | Stabilizing | 1.0 | D | 0.806 | deleterious | D | 0.529873329 | None | None | N |
| D/W | 0.9917 | likely_pathogenic | 0.9924 | pathogenic | -0.173 | Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| D/Y | 0.7255 | likely_pathogenic | 0.7374 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.837 | deleterious | D | 0.539409664 | 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.