Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22394 | 67405;67406;67407 | chr2:178580107;178580106;178580105 | chr2:179444834;179444833;179444832 |
| N2AB | 20753 | 62482;62483;62484 | chr2:178580107;178580106;178580105 | chr2:179444834;179444833;179444832 |
| N2A | 19826 | 59701;59702;59703 | chr2:178580107;178580106;178580105 | chr2:179444834;179444833;179444832 |
| N2B | 13329 | 40210;40211;40212 | chr2:178580107;178580106;178580105 | chr2:179444834;179444833;179444832 |
| Novex-1 | 13454 | 40585;40586;40587 | chr2:178580107;178580106;178580105 | chr2:179444834;179444833;179444832 |
| Novex-2 | 13521 | 40786;40787;40788 | chr2:178580107;178580106;178580105 | chr2:179444834;179444833;179444832 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/C | rs1388705607  |
None | 1.0 | N | 0.9 | 0.6 | 0.578489777024 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| R/C | rs1388705607 |
None | 1.0 | N | 0.9 | 0.6 | 0.578489777024 | gnomAD-4.0.0 | 1.23976E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47817E-07 | 1.09796E-05 | 0 |
| R/H | rs777333661 |
-2.602 | 1.0 | N | 0.778 | 0.553 | 0.427940940899 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| R/H | rs777333661 |
-2.602 | 1.0 | N | 0.778 | 0.553 | 0.427940940899 | gnomAD-4.0.0 | 1.02657E-05 | None | None | None | None | N | None | 2.99079E-05 | 0 | None | 0 | 0 | None | 0 | 1.73611E-04 | 1.16959E-05 | 0 | 0 |
| R/P | None | None | 1.0 | D | 0.895 | 0.586 | 0.525258673147 | gnomAD-4.0.0 | 6.84381E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99683E-07 | 0 | 0 |
| R/S | None | None | 1.0 | N | 0.787 | 0.561 | 0.415055319159 | gnomAD-4.0.0 | 6.84381E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.1595E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.9857 | likely_pathogenic | 0.9849 | pathogenic | -2.33 | Highly Destabilizing | 0.999 | D | 0.558 | neutral | None | None | None | None | N |
| R/C | 0.8097 | likely_pathogenic | 0.7734 | pathogenic | -2.007 | Highly Destabilizing | 1.0 | D | 0.9 | deleterious | N | 0.492110067 | None | None | N |
| R/D | 0.998 | likely_pathogenic | 0.9979 | pathogenic | -1.013 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| R/E | 0.9803 | likely_pathogenic | 0.9773 | pathogenic | -0.804 | Destabilizing | 0.999 | D | 0.556 | neutral | None | None | None | None | N |
| R/F | 0.9896 | likely_pathogenic | 0.9878 | pathogenic | -1.608 | Destabilizing | 1.0 | D | 0.905 | deleterious | None | None | None | None | N |
| R/G | 0.9706 | likely_pathogenic | 0.969 | pathogenic | -2.642 | Highly Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.507821239 | None | None | N |
| R/H | 0.6691 | likely_pathogenic | 0.6205 | pathogenic | -2.448 | Highly Destabilizing | 1.0 | D | 0.778 | deleterious | N | 0.500263595 | None | None | N |
| R/I | 0.9855 | likely_pathogenic | 0.9819 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.916 | deleterious | None | None | None | None | N |
| R/K | 0.3946 | ambiguous | 0.335 | benign | -1.322 | Destabilizing | 0.998 | D | 0.471 | neutral | None | None | None | None | N |
| R/L | 0.9543 | likely_pathogenic | 0.9494 | pathogenic | -1.411 | Destabilizing | 1.0 | D | 0.783 | deleterious | N | 0.50426284 | None | None | N |
| R/M | 0.9566 | likely_pathogenic | 0.9482 | pathogenic | -1.833 | Destabilizing | 1.0 | D | 0.872 | deleterious | None | None | None | None | N |
| R/N | 0.9929 | likely_pathogenic | 0.9921 | pathogenic | -1.265 | Destabilizing | 1.0 | D | 0.709 | prob.delet. | None | None | None | None | N |
| R/P | 0.9991 | likely_pathogenic | 0.9993 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.895 | deleterious | D | 0.547574921 | None | None | N |
| R/Q | 0.6 | likely_pathogenic | 0.5448 | ambiguous | -1.196 | Destabilizing | 1.0 | D | 0.689 | prob.neutral | None | None | None | None | N |
| R/S | 0.9946 | likely_pathogenic | 0.994 | pathogenic | -2.232 | Highly Destabilizing | 1.0 | D | 0.787 | deleterious | N | 0.487662614 | None | None | N |
| R/T | 0.9906 | likely_pathogenic | 0.9885 | pathogenic | -1.82 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| R/V | 0.9865 | likely_pathogenic | 0.9836 | pathogenic | -1.71 | Destabilizing | 1.0 | D | 0.895 | deleterious | None | None | None | None | N |
| R/W | 0.8892 | likely_pathogenic | 0.883 | pathogenic | -1.072 | Destabilizing | 1.0 | D | 0.887 | deleterious | None | None | None | None | N |
| R/Y | 0.9567 | likely_pathogenic | 0.9472 | pathogenic | -0.986 | Destabilizing | 1.0 | D | 0.921 | 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.