Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 26646 | 80161;80162;80163 | chr2:178566196;178566195;178566194 | chr2:179430923;179430922;179430921 |
| N2AB | 25005 | 75238;75239;75240 | chr2:178566196;178566195;178566194 | chr2:179430923;179430922;179430921 |
| N2A | 24078 | 72457;72458;72459 | chr2:178566196;178566195;178566194 | chr2:179430923;179430922;179430921 |
| N2B | 17581 | 52966;52967;52968 | chr2:178566196;178566195;178566194 | chr2:179430923;179430922;179430921 |
| Novex-1 | 17706 | 53341;53342;53343 | chr2:178566196;178566195;178566194 | chr2:179430923;179430922;179430921 |
| Novex-2 | 17773 | 53542;53543;53544 | chr2:178566196;178566195;178566194 | chr2:179430923;179430922;179430921 |
| 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 | rs1231567594  |
-0.388 | 0.983 | N | 0.763 | 0.478 | 0.345632371893 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 0 | 1.17924E-03 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1231567594 |
-0.388 | 0.983 | N | 0.763 | 0.478 | 0.345632371893 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs1231567594 |
-0.388 | 0.983 | N | 0.763 | 0.478 | 0.345632371893 | gnomAD-4.0.0 | 2.56264E-06 | None | None | None | None | N | None | 0 | 3.39109E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/N | rs1231567594 |
-1.64 | 0.967 | N | 0.723 | 0.393 | 0.30212335484 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/N | rs1231567594 |
-1.64 | 0.967 | N | 0.723 | 0.393 | 0.30212335484 | gnomAD-4.0.0 | 1.59147E-06 | None | None | None | None | N | None | 5.65867E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | 0.099 | N | 0.467 | 0.135 | 0.0986583533028 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-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 | 0.3182 | likely_benign | 0.2989 | benign | -1.777 | Destabilizing | 0.63 | D | 0.663 | neutral | N | 0.453904461 | None | None | N |
| T/C | 0.6802 | likely_pathogenic | 0.6765 | pathogenic | -1.69 | Destabilizing | 0.999 | D | 0.766 | deleterious | None | None | None | None | N |
| T/D | 0.9854 | likely_pathogenic | 0.986 | pathogenic | -2.428 | Highly Destabilizing | 0.975 | D | 0.752 | deleterious | None | None | None | None | N |
| T/E | 0.9861 | likely_pathogenic | 0.9866 | pathogenic | -2.133 | Highly Destabilizing | 0.975 | D | 0.755 | deleterious | None | None | None | None | N |
| T/F | 0.9483 | likely_pathogenic | 0.9488 | pathogenic | -0.984 | Destabilizing | 0.987 | D | 0.783 | deleterious | None | None | None | None | N |
| T/G | 0.8097 | likely_pathogenic | 0.794 | pathogenic | -2.149 | Highly Destabilizing | 0.845 | D | 0.713 | prob.delet. | None | None | None | None | N |
| T/H | 0.9387 | likely_pathogenic | 0.9401 | pathogenic | -1.667 | Destabilizing | 0.999 | D | 0.786 | deleterious | None | None | None | None | N |
| T/I | 0.813 | likely_pathogenic | 0.8207 | pathogenic | -0.715 | Destabilizing | 0.983 | D | 0.763 | deleterious | N | 0.490570724 | None | None | N |
| T/K | 0.9853 | likely_pathogenic | 0.9863 | pathogenic | -1.027 | Destabilizing | 0.975 | D | 0.755 | deleterious | None | None | None | None | N |
| T/L | 0.6069 | likely_pathogenic | 0.6233 | pathogenic | -0.715 | Destabilizing | 0.916 | D | 0.696 | prob.neutral | None | None | None | None | N |
| T/M | 0.4829 | ambiguous | 0.4842 | ambiguous | -1.322 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| T/N | 0.8579 | likely_pathogenic | 0.8642 | pathogenic | -1.973 | Destabilizing | 0.967 | D | 0.723 | prob.delet. | N | 0.471923491 | None | None | N |
| T/P | 0.9492 | likely_pathogenic | 0.9501 | pathogenic | -1.054 | Destabilizing | 0.983 | D | 0.766 | deleterious | N | 0.486811743 | None | None | N |
| T/Q | 0.9515 | likely_pathogenic | 0.9526 | pathogenic | -1.482 | Destabilizing | 0.975 | D | 0.764 | deleterious | None | None | None | None | N |
| T/R | 0.9744 | likely_pathogenic | 0.9765 | pathogenic | -1.405 | Destabilizing | 0.975 | D | 0.767 | deleterious | None | None | None | None | N |
| T/S | 0.2622 | likely_benign | 0.2516 | benign | -2.232 | Highly Destabilizing | 0.099 | N | 0.467 | neutral | N | 0.453301455 | None | None | N |
| T/V | 0.5773 | likely_pathogenic | 0.5866 | pathogenic | -1.054 | Destabilizing | 0.916 | D | 0.652 | neutral | None | None | None | None | N |
| T/W | 0.9907 | likely_pathogenic | 0.992 | pathogenic | -1.15 | Destabilizing | 0.999 | D | 0.783 | deleterious | None | None | None | None | N |
| T/Y | 0.9652 | likely_pathogenic | 0.9667 | pathogenic | -0.979 | Destabilizing | 0.996 | D | 0.789 | 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.