Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 10146 | 30661;30662;30663 | chr2:178702243;178702242;178702241 | chr2:179566970;179566969;179566968 |
| N2AB | 9829 | 29710;29711;29712 | chr2:178702243;178702242;178702241 | chr2:179566970;179566969;179566968 |
| N2A | 8902 | 26929;26930;26931 | chr2:178702243;178702242;178702241 | chr2:179566970;179566969;179566968 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/D | rs372185371  |
-0.098 | 1.0 | None | 0.789 | 0.489 | 0.851908029137 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | N | None | 1.23998E-04 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/D | rs372185371 |
-0.098 | 1.0 | None | 0.789 | 0.489 | 0.851908029137 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | N | None | 2.41383E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/D | rs372185371 |
-0.098 | 1.0 | None | 0.789 | 0.489 | 0.851908029137 | gnomAD-4.0.0 | 9.91425E-06 | None | None | None | None | N | None | 1.86896E-04 | 3.33356E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs372185371 |
None | 1.0 | None | 0.775 | 0.567 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs372185371 |
None | 1.0 | None | 0.775 | 0.567 | None | gnomAD-4.0.0 | 6.57272E-06 | None | None | None | None | N | None | 2.41383E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/I | rs1553875094 |
None | 0.997 | None | 0.536 | 0.238 | 0.640388181781 | gnomAD-4.0.0 | 1.59088E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 2.4108E-04 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.7447 | likely_pathogenic | 0.7846 | pathogenic | -1.14 | Destabilizing | 0.999 | D | 0.669 | neutral | None | None | None | None | N |
| V/C | 0.9515 | likely_pathogenic | 0.9666 | pathogenic | -0.779 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| V/D | 0.8753 | likely_pathogenic | 0.899 | pathogenic | -0.344 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/E | 0.7274 | likely_pathogenic | 0.7849 | pathogenic | -0.38 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| V/F | 0.5908 | likely_pathogenic | 0.6144 | pathogenic | -0.982 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| V/G | 0.8262 | likely_pathogenic | 0.8437 | pathogenic | -1.407 | Destabilizing | 1.0 | D | 0.775 | deleterious | None | None | None | None | N |
| V/H | 0.9403 | likely_pathogenic | 0.955 | pathogenic | -0.87 | Destabilizing | 1.0 | D | 0.78 | deleterious | None | None | None | None | N |
| V/I | 0.1022 | likely_benign | 0.1171 | benign | -0.535 | Destabilizing | 0.997 | D | 0.536 | neutral | None | None | None | None | N |
| V/K | 0.8058 | likely_pathogenic | 0.8571 | pathogenic | -0.677 | Destabilizing | 1.0 | D | 0.741 | deleterious | None | None | None | None | N |
| V/L | 0.6174 | likely_pathogenic | 0.6745 | pathogenic | -0.535 | Destabilizing | 0.997 | D | 0.594 | neutral | None | None | None | None | N |
| V/M | 0.4527 | ambiguous | 0.5308 | ambiguous | -0.432 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| V/N | 0.7437 | likely_pathogenic | 0.8068 | pathogenic | -0.405 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | N |
| V/P | 0.9407 | likely_pathogenic | 0.9446 | pathogenic | -0.701 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| V/Q | 0.771 | likely_pathogenic | 0.8282 | pathogenic | -0.593 | Destabilizing | 1.0 | D | 0.759 | deleterious | None | None | None | None | N |
| V/R | 0.7662 | likely_pathogenic | 0.7949 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.796 | deleterious | None | None | None | None | N |
| V/S | 0.7725 | likely_pathogenic | 0.8071 | pathogenic | -0.999 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| V/T | 0.5174 | ambiguous | 0.6009 | pathogenic | -0.917 | Destabilizing | 0.999 | D | 0.656 | neutral | None | None | None | None | N |
| V/W | 0.9769 | likely_pathogenic | 0.9819 | pathogenic | -1.073 | Destabilizing | 1.0 | D | 0.756 | deleterious | None | None | None | None | N |
| V/Y | 0.9109 | likely_pathogenic | 0.9237 | pathogenic | -0.772 | Destabilizing | 1.0 | D | 0.765 | 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.