Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5785 | 17578;17579;17580 | chr2:178731413;178731412;178731411 | chr2:179596140;179596139;179596138 |
| N2AB | 5468 | 16627;16628;16629 | chr2:178731413;178731412;178731411 | chr2:179596140;179596139;179596138 |
| N2A | 4541 | 13846;13847;13848 | chr2:178731413;178731412;178731411 | chr2:179596140;179596139;179596138 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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/D | rs1193275554  |
None | 1.0 | N | 0.874 | 0.367 | 0.530109961917 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| A/D | rs1193275554 |
None | 1.0 | N | 0.874 | 0.367 | 0.530109961917 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 2.28697E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | None | None | 0.884 | N | 0.463 | 0.241 | 0.359963025489 | gnomAD-4.0.0 | 1.59124E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85817E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.8137 | likely_pathogenic | 0.7643 | pathogenic | -0.887 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| A/D | 0.9952 | likely_pathogenic | 0.9917 | pathogenic | -1.966 | Destabilizing | 1.0 | D | 0.874 | deleterious | N | 0.484280528 | None | None | N |
| A/E | 0.99 | likely_pathogenic | 0.9835 | pathogenic | -1.761 | Destabilizing | 1.0 | D | 0.835 | deleterious | None | None | None | None | N |
| A/F | 0.882 | likely_pathogenic | 0.8748 | pathogenic | -0.483 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| A/G | 0.4264 | ambiguous | 0.4157 | ambiguous | -1.263 | Destabilizing | 0.999 | D | 0.64 | neutral | N | 0.480066768 | None | None | N |
| A/H | 0.9911 | likely_pathogenic | 0.9857 | pathogenic | -1.846 | Destabilizing | 1.0 | D | 0.869 | deleterious | None | None | None | None | N |
| A/I | 0.7211 | likely_pathogenic | 0.7128 | pathogenic | 0.561 | Stabilizing | 0.994 | D | 0.751 | deleterious | None | None | None | None | N |
| A/K | 0.9969 | likely_pathogenic | 0.9949 | pathogenic | -0.775 | Destabilizing | 1.0 | D | 0.846 | deleterious | None | None | None | None | N |
| A/L | 0.6339 | likely_pathogenic | 0.6498 | pathogenic | 0.561 | Stabilizing | 0.994 | D | 0.685 | prob.neutral | None | None | None | None | N |
| A/M | 0.7796 | likely_pathogenic | 0.7783 | pathogenic | 0.238 | Stabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| A/N | 0.9845 | likely_pathogenic | 0.9773 | pathogenic | -1.084 | Destabilizing | 1.0 | D | 0.886 | deleterious | None | None | None | None | N |
| A/P | 0.9867 | likely_pathogenic | 0.9832 | pathogenic | 0.163 | Stabilizing | 1.0 | D | 0.869 | deleterious | N | 0.461149844 | None | None | N |
| A/Q | 0.9795 | likely_pathogenic | 0.9707 | pathogenic | -0.858 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/R | 0.9888 | likely_pathogenic | 0.9832 | pathogenic | -1.023 | Destabilizing | 1.0 | D | 0.875 | deleterious | None | None | None | None | N |
| A/S | 0.4501 | ambiguous | 0.4064 | ambiguous | -1.509 | Destabilizing | 0.998 | D | 0.653 | neutral | N | 0.466038678 | None | None | N |
| A/T | 0.5541 | ambiguous | 0.4882 | ambiguous | -1.168 | Destabilizing | 0.996 | D | 0.687 | prob.neutral | N | 0.458868438 | None | None | N |
| A/V | 0.3956 | ambiguous | 0.3794 | ambiguous | 0.163 | Stabilizing | 0.884 | D | 0.463 | neutral | N | 0.458868438 | None | None | N |
| A/W | 0.9946 | likely_pathogenic | 0.9926 | pathogenic | -1.306 | Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | None | None | N |
| A/Y | 0.9685 | likely_pathogenic | 0.961 | pathogenic | -0.682 | Destabilizing | 1.0 | D | 0.888 | deleterious | 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.