Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25762 | 77509;77510;77511 | chr2:178568848;178568847;178568846 | chr2:179433575;179433574;179433573 |
| N2AB | 24121 | 72586;72587;72588 | chr2:178568848;178568847;178568846 | chr2:179433575;179433574;179433573 |
| N2A | 23194 | 69805;69806;69807 | chr2:178568848;178568847;178568846 | chr2:179433575;179433574;179433573 |
| N2B | 16697 | 50314;50315;50316 | chr2:178568848;178568847;178568846 | chr2:179433575;179433574;179433573 |
| Novex-1 | 16822 | 50689;50690;50691 | chr2:178568848;178568847;178568846 | chr2:179433575;179433574;179433573 |
| Novex-2 | 16889 | 50890;50891;50892 | chr2:178568848;178568847;178568846 | chr2:179433575;179433574;179433573 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | None | None | 0.669 | N | 0.341 | 0.237 | 0.286848849266 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 6.07533E-05 | 0 |
| T/N | None | None | 0.966 | N | 0.356 | 0.24 | 0.284150004643 | gnomAD-4.0.0 | 2.40065E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.62501E-06 | 0 | 0 |
| T/P | rs1387446421  |
-0.835 | 0.966 | N | 0.391 | 0.339 | 0.326345978581 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.58E-05 | None | 0 | None | 0 | 0 | 0 |
| T/P | rs1387446421 |
-0.835 | 0.966 | N | 0.391 | 0.339 | 0.326345978581 | gnomAD-4.0.0 | 6.84492E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52245E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | 0.454 | N | 0.339 | 0.083 | 0.117506650769 | gnomAD-4.0.0 | 2.05348E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69884E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0856 | likely_benign | 0.0753 | benign | -0.71 | Destabilizing | 0.005 | N | 0.074 | neutral | N | 0.460953438 | None | None | N |
| T/C | 0.4259 | ambiguous | 0.338 | benign | -0.412 | Destabilizing | 0.998 | D | 0.376 | neutral | None | None | None | None | N |
| T/D | 0.4511 | ambiguous | 0.385 | ambiguous | 0.244 | Stabilizing | 0.974 | D | 0.386 | neutral | None | None | None | None | N |
| T/E | 0.3219 | likely_benign | 0.2721 | benign | 0.21 | Stabilizing | 0.842 | D | 0.369 | neutral | None | None | None | None | N |
| T/F | 0.2509 | likely_benign | 0.2008 | benign | -1.006 | Destabilizing | 0.949 | D | 0.425 | neutral | None | None | None | None | N |
| T/G | 0.2514 | likely_benign | 0.2181 | benign | -0.907 | Destabilizing | 0.728 | D | 0.369 | neutral | None | None | None | None | N |
| T/H | 0.2295 | likely_benign | 0.1918 | benign | -1.106 | Destabilizing | 0.998 | D | 0.433 | neutral | None | None | None | None | N |
| T/I | 0.1193 | likely_benign | 0.095 | benign | -0.295 | Destabilizing | 0.669 | D | 0.341 | neutral | N | 0.452219311 | None | None | N |
| T/K | 0.1915 | likely_benign | 0.1686 | benign | -0.494 | Destabilizing | 0.842 | D | 0.377 | neutral | None | None | None | None | N |
| T/L | 0.0856 | likely_benign | 0.0728 | benign | -0.295 | Destabilizing | 0.007 | N | 0.121 | neutral | None | None | None | None | N |
| T/M | 0.0947 | likely_benign | 0.0823 | benign | -0.117 | Destabilizing | 0.949 | D | 0.381 | neutral | None | None | None | None | N |
| T/N | 0.1169 | likely_benign | 0.0968 | benign | -0.347 | Destabilizing | 0.966 | D | 0.356 | neutral | N | 0.442175676 | None | None | N |
| T/P | 0.1734 | likely_benign | 0.1659 | benign | -0.403 | Destabilizing | 0.966 | D | 0.391 | neutral | N | 0.49889575 | None | None | N |
| T/Q | 0.1866 | likely_benign | 0.1673 | benign | -0.514 | Destabilizing | 0.974 | D | 0.381 | neutral | None | None | None | None | N |
| T/R | 0.1765 | likely_benign | 0.155 | benign | -0.231 | Destabilizing | 0.974 | D | 0.391 | neutral | None | None | None | None | N |
| T/S | 0.1042 | likely_benign | 0.0926 | benign | -0.649 | Destabilizing | 0.454 | N | 0.339 | neutral | N | 0.425667428 | None | None | N |
| T/V | 0.1068 | likely_benign | 0.0887 | benign | -0.403 | Destabilizing | 0.525 | D | 0.319 | neutral | None | None | None | None | N |
| T/W | 0.6405 | likely_pathogenic | 0.5601 | ambiguous | -0.95 | Destabilizing | 0.998 | D | 0.491 | neutral | None | None | None | None | N |
| T/Y | 0.3077 | likely_benign | 0.2519 | benign | -0.701 | Destabilizing | 0.991 | D | 0.435 | 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.