Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33173 | 99742;99743;99744 | chr2:178537690;178537689;178537688 | chr2:179402417;179402416;179402415 |
| N2AB | 31532 | 94819;94820;94821 | chr2:178537690;178537689;178537688 | chr2:179402417;179402416;179402415 |
| N2A | 30605 | 92038;92039;92040 | chr2:178537690;178537689;178537688 | chr2:179402417;179402416;179402415 |
| N2B | 24108 | 72547;72548;72549 | chr2:178537690;178537689;178537688 | chr2:179402417;179402416;179402415 |
| Novex-1 | 24233 | 72922;72923;72924 | chr2:178537690;178537689;178537688 | chr2:179402417;179402416;179402415 |
| Novex-2 | 24300 | 73123;73124;73125 | chr2:178537690;178537689;178537688 | chr2:179402417;179402416;179402415 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | rs773021609  |
-2.168 | 1.0 | D | 0.779 | 0.783 | 0.746301299509 | gnomAD-2.1.1 | 4.02E-06 | None | None | disulfide | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| C/S | rs773021609 |
-2.168 | 1.0 | D | 0.779 | 0.783 | 0.746301299509 | gnomAD-3.1.2 | 5.26E-05 | None | None | disulfide | None | N | None | 1.20616E-04 | 1.96618E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| C/S | rs773021609 |
-2.168 | 1.0 | D | 0.779 | 0.783 | 0.746301299509 | gnomAD-4.0.0 | 1.92162E-05 | None | None | disulfide | None | N | None | 1.01475E-04 | 8.47745E-05 | None | 0 | 0 | None | 0 | 0 | 2.39296E-06 | 0 | 8.53388E-05 |
| C/Y | rs761362832 |
-1.68 | 1.0 | D | 0.883 | 0.755 | 0.770587509068 | gnomAD-2.1.1 | 5.22E-05 | None | None | disulfide | None | N | None | 0 | 3.19174E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 1.65673E-04 |
| C/Y | rs761362832 |
-1.68 | 1.0 | D | 0.883 | 0.755 | 0.770587509068 | gnomAD-3.1.2 | 2.63E-05 | None | None | disulfide | None | N | None | 0 | 1.96618E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/Y | rs761362832 |
-1.68 | 1.0 | D | 0.883 | 0.755 | 0.770587509068 | gnomAD-4.0.0 | 2.72678E-05 | None | None | disulfide | None | N | None | 0 | 3.5021E-04 | None | 0 | 0 | None | 0 | 0 | 1.78001E-05 | 0 | 3.20266E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8604 | likely_pathogenic | 0.889 | pathogenic | -1.755 | Destabilizing | 0.999 | D | 0.751 | deleterious | None | None | disulfide | None | N |
| C/D | 0.9998 | likely_pathogenic | 0.9998 | pathogenic | -1.628 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | disulfide | None | N |
| C/E | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.378 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | disulfide | None | N |
| C/F | 0.8664 | likely_pathogenic | 0.8763 | pathogenic | -1.068 | Destabilizing | 1.0 | D | 0.875 | deleterious | D | 0.55972551 | disulfide | None | N |
| C/G | 0.8714 | likely_pathogenic | 0.9022 | pathogenic | -2.136 | Highly Destabilizing | 1.0 | D | 0.862 | deleterious | D | 0.561246447 | disulfide | None | N |
| C/H | 0.9988 | likely_pathogenic | 0.9987 | pathogenic | -2.316 | Highly Destabilizing | 1.0 | D | 0.87 | deleterious | None | None | disulfide | None | N |
| C/I | 0.8523 | likely_pathogenic | 0.874 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | disulfide | None | N |
| C/K | 0.9998 | likely_pathogenic | 0.9999 | pathogenic | -1.198 | Destabilizing | 1.0 | D | 0.873 | deleterious | None | None | disulfide | None | N |
| C/L | 0.7978 | likely_pathogenic | 0.8356 | pathogenic | -0.715 | Destabilizing | 1.0 | D | 0.754 | deleterious | None | None | disulfide | None | N |
| C/M | 0.9147 | likely_pathogenic | 0.9253 | pathogenic | 0.219 | Stabilizing | 1.0 | D | 0.819 | deleterious | None | None | disulfide | None | N |
| C/N | 0.9981 | likely_pathogenic | 0.9981 | pathogenic | -1.873 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | disulfide | None | N |
| C/P | 0.9996 | likely_pathogenic | 0.9997 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | disulfide | None | N |
| C/Q | 0.9991 | likely_pathogenic | 0.9992 | pathogenic | -1.37 | Destabilizing | 1.0 | D | 0.89 | deleterious | None | None | disulfide | None | N |
| C/R | 0.998 | likely_pathogenic | 0.9983 | pathogenic | -1.625 | Destabilizing | 1.0 | D | 0.886 | deleterious | D | 0.561246447 | disulfide | None | N |
| C/S | 0.9644 | likely_pathogenic | 0.9716 | pathogenic | -2.186 | Highly Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.561246447 | disulfide | None | N |
| C/T | 0.9747 | likely_pathogenic | 0.9792 | pathogenic | -1.74 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | disulfide | None | N |
| C/V | 0.7344 | likely_pathogenic | 0.7554 | pathogenic | -1.039 | Destabilizing | 1.0 | D | 0.766 | deleterious | None | None | disulfide | None | N |
| C/W | 0.9958 | likely_pathogenic | 0.9965 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.829 | deleterious | D | 0.561246447 | disulfide | None | N |
| C/Y | 0.9859 | likely_pathogenic | 0.9886 | pathogenic | -1.278 | Destabilizing | 1.0 | D | 0.883 | deleterious | D | 0.561246447 | disulfide | 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.