Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31909 | 95950;95951;95952 | chr2:178544504;178544503;178544502 | chr2:179409231;179409230;179409229 |
| N2AB | 30268 | 91027;91028;91029 | chr2:178544504;178544503;178544502 | chr2:179409231;179409230;179409229 |
| N2A | 29341 | 88246;88247;88248 | chr2:178544504;178544503;178544502 | chr2:179409231;179409230;179409229 |
| N2B | 22844 | 68755;68756;68757 | chr2:178544504;178544503;178544502 | chr2:179409231;179409230;179409229 |
| Novex-1 | 22969 | 69130;69131;69132 | chr2:178544504;178544503;178544502 | chr2:179409231;179409230;179409229 |
| Novex-2 | 23036 | 69331;69332;69333 | chr2:178544504;178544503;178544502 | chr2:179409231;179409230;179409229 |
| 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 | rs997340744  |
None | 1.0 | N | 0.639 | 0.352 | 0.375861065471 | gnomAD-4.0.0 | 6.96522E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 9.13581E-07 | 0 | 0 |
| T/N | rs997340744 |
None | 1.0 | N | 0.575 | 0.308 | 0.372993862945 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/N | rs997340744 |
None | 1.0 | N | 0.575 | 0.308 | 0.372993862945 | gnomAD-4.0.0 | 1.25958E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.72028E-06 | 0 | 0 |
| T/S | None | None | 0.996 | N | 0.457 | 0.137 | 0.280181792013 | gnomAD-4.0.0 | 1.39304E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.55284E-05 | None | 0 | 0 | 9.13581E-07 | 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 | 0.0772 | likely_benign | 0.0817 | benign | -0.72 | Destabilizing | 0.991 | D | 0.436 | neutral | N | 0.40282228 | None | None | I |
| T/C | 0.2943 | likely_benign | 0.3471 | ambiguous | -0.369 | Destabilizing | 1.0 | D | 0.593 | neutral | None | None | None | None | I |
| T/D | 0.4529 | ambiguous | 0.4966 | ambiguous | 0.076 | Stabilizing | 0.999 | D | 0.599 | neutral | None | None | None | None | I |
| T/E | 0.2755 | likely_benign | 0.3165 | benign | 0.001 | Stabilizing | 0.999 | D | 0.608 | neutral | None | None | None | None | I |
| T/F | 0.2322 | likely_benign | 0.2486 | benign | -1.179 | Destabilizing | 1.0 | D | 0.737 | deleterious | None | None | None | None | I |
| T/G | 0.3225 | likely_benign | 0.3549 | ambiguous | -0.853 | Destabilizing | 0.999 | D | 0.557 | neutral | None | None | None | None | I |
| T/H | 0.2522 | likely_benign | 0.2723 | benign | -1.195 | Destabilizing | 1.0 | D | 0.723 | deleterious | None | None | None | None | I |
| T/I | 0.086 | likely_benign | 0.0912 | benign | -0.479 | Destabilizing | 1.0 | D | 0.639 | neutral | N | 0.440092589 | None | None | I |
| T/K | 0.1526 | likely_benign | 0.1555 | benign | -0.485 | Destabilizing | 0.999 | D | 0.607 | neutral | None | None | None | None | I |
| T/L | 0.0652 | likely_benign | 0.0693 | benign | -0.479 | Destabilizing | 0.997 | D | 0.661 | prob.neutral | None | None | None | None | I |
| T/M | 0.0769 | likely_benign | 0.081 | benign | -0.051 | Destabilizing | 1.0 | D | 0.593 | neutral | None | None | None | None | I |
| T/N | 0.1503 | likely_benign | 0.172 | benign | -0.239 | Destabilizing | 1.0 | D | 0.575 | neutral | N | 0.486211668 | None | None | I |
| T/P | 0.0708 | likely_benign | 0.0736 | benign | -0.532 | Destabilizing | 0.262 | N | 0.345 | neutral | N | 0.318995749 | None | None | I |
| T/Q | 0.1891 | likely_benign | 0.2068 | benign | -0.554 | Destabilizing | 1.0 | D | 0.59 | neutral | None | None | None | None | I |
| T/R | 0.1482 | likely_benign | 0.1467 | benign | -0.177 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | I |
| T/S | 0.1245 | likely_benign | 0.1391 | benign | -0.52 | Destabilizing | 0.996 | D | 0.457 | neutral | N | 0.466836473 | None | None | I |
| T/V | 0.0767 | likely_benign | 0.084 | benign | -0.532 | Destabilizing | 0.997 | D | 0.583 | neutral | None | None | None | None | I |
| T/W | 0.6425 | likely_pathogenic | 0.6727 | pathogenic | -1.081 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | I |
| T/Y | 0.2626 | likely_benign | 0.2915 | benign | -0.843 | Destabilizing | 1.0 | D | 0.737 | 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.