Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26475 | 79648;79649;79650 | chr2:178566709;178566708;178566707 | chr2:179431436;179431435;179431434 |
| N2AB | 24834 | 74725;74726;74727 | chr2:178566709;178566708;178566707 | chr2:179431436;179431435;179431434 |
| N2A | 23907 | 71944;71945;71946 | chr2:178566709;178566708;178566707 | chr2:179431436;179431435;179431434 |
| N2B | 17410 | 52453;52454;52455 | chr2:178566709;178566708;178566707 | chr2:179431436;179431435;179431434 |
| Novex-1 | 17535 | 52828;52829;52830 | chr2:178566709;178566708;178566707 | chr2:179431436;179431435;179431434 |
| Novex-2 | 17602 | 53029;53030;53031 | chr2:178566709;178566708;178566707 | chr2:179431436;179431435;179431434 |
| 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 | rs1706007740  |
None | 0.094 | N | 0.298 | 0.206 | 0.315609569513 | gnomAD-4.0.0 | 1.59212E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.77346E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/P | rs1245328296 |
0.013 | None | N | 0.178 | 0.2 | 0.156986980423 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| A/P | rs1245328296 |
0.013 | None | N | 0.178 | 0.2 | 0.156986980423 | gnomAD-4.0.0 | 1.3687E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99536E-07 | 1.15945E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3623 | ambiguous | 0.325 | benign | -0.623 | Destabilizing | 0.964 | D | 0.465 | neutral | None | None | None | None | I |
| A/D | 0.4514 | ambiguous | 0.4221 | ambiguous | -0.331 | Destabilizing | 0.112 | N | 0.495 | neutral | N | 0.469465773 | None | None | I |
| A/E | 0.3359 | likely_benign | 0.3101 | benign | -0.4 | Destabilizing | 0.004 | N | 0.298 | neutral | None | None | None | None | I |
| A/F | 0.4264 | ambiguous | 0.3605 | ambiguous | -0.776 | Destabilizing | 0.703 | D | 0.528 | neutral | None | None | None | None | I |
| A/G | 0.1646 | likely_benign | 0.1477 | benign | -0.742 | Destabilizing | 0.094 | N | 0.298 | neutral | N | 0.487570028 | None | None | I |
| A/H | 0.5519 | ambiguous | 0.5108 | ambiguous | -0.809 | Destabilizing | 0.878 | D | 0.486 | neutral | None | None | None | None | I |
| A/I | 0.2118 | likely_benign | 0.1526 | benign | -0.199 | Destabilizing | 0.143 | N | 0.54 | neutral | None | None | None | None | I |
| A/K | 0.569 | likely_pathogenic | 0.543 | ambiguous | -0.772 | Destabilizing | 0.25 | N | 0.52 | neutral | None | None | None | None | I |
| A/L | 0.1806 | likely_benign | 0.1555 | benign | -0.199 | Destabilizing | 0.064 | N | 0.409 | neutral | None | None | None | None | I |
| A/M | 0.242 | likely_benign | 0.192 | benign | -0.241 | Destabilizing | 0.703 | D | 0.41 | neutral | None | None | None | None | I |
| A/N | 0.3022 | likely_benign | 0.2556 | benign | -0.466 | Destabilizing | 0.25 | N | 0.612 | neutral | None | None | None | None | I |
| A/P | 0.0795 | likely_benign | 0.0855 | benign | -0.275 | Destabilizing | None | N | 0.178 | neutral | N | 0.365266756 | None | None | I |
| A/Q | 0.3729 | ambiguous | 0.3557 | ambiguous | -0.624 | Destabilizing | 0.25 | N | 0.597 | neutral | None | None | None | None | I |
| A/R | 0.5386 | ambiguous | 0.5235 | ambiguous | -0.442 | Destabilizing | 0.25 | N | 0.599 | neutral | None | None | None | None | I |
| A/S | 0.0987 | likely_benign | 0.0929 | benign | -0.815 | Destabilizing | 0.01 | N | 0.107 | neutral | N | 0.445461123 | None | None | I |
| A/T | 0.098 | likely_benign | 0.0859 | benign | -0.783 | Destabilizing | 0.001 | N | 0.092 | neutral | N | 0.444036971 | None | None | I |
| A/V | 0.1137 | likely_benign | 0.0924 | benign | -0.275 | Destabilizing | 0.001 | N | 0.091 | neutral | N | 0.464449529 | None | None | I |
| A/W | 0.7889 | likely_pathogenic | 0.7693 | pathogenic | -1.052 | Destabilizing | 0.964 | D | 0.583 | neutral | None | None | None | None | I |
| A/Y | 0.5682 | likely_pathogenic | 0.5027 | ambiguous | -0.647 | Destabilizing | 0.703 | D | 0.539 | neutral | 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.