Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 21383 | 64372;64373;64374 | chr2:178586754;178586753;178586752 | chr2:179451481;179451480;179451479 |
| N2AB | 19742 | 59449;59450;59451 | chr2:178586754;178586753;178586752 | chr2:179451481;179451480;179451479 |
| N2A | 18815 | 56668;56669;56670 | chr2:178586754;178586753;178586752 | chr2:179451481;179451480;179451479 |
| N2B | 12318 | 37177;37178;37179 | chr2:178586754;178586753;178586752 | chr2:179451481;179451480;179451479 |
| Novex-1 | 12443 | 37552;37553;37554 | chr2:178586754;178586753;178586752 | chr2:179451481;179451480;179451479 |
| Novex-2 | 12510 | 37753;37754;37755 | chr2:178586754;178586753;178586752 | chr2:179451481;179451480;179451479 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs727503582  |
-1.852 | 0.996 | N | 0.623 | 0.339 | 0.308904156042 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.89E-06 | 0 |
| A/T | rs727503582 |
-1.852 | 0.996 | N | 0.623 | 0.339 | 0.308904156042 | 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 |
| A/T | rs727503582 |
-1.852 | 0.996 | N | 0.623 | 0.339 | 0.308904156042 | gnomAD-4.0.0 | 2.72794E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.73096E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.4391 | ambiguous | 0.4517 | ambiguous | -1.847 | Destabilizing | 1.0 | D | 0.782 | deleterious | None | None | None | None | N |
| A/D | 0.9961 | likely_pathogenic | 0.9933 | pathogenic | -2.328 | Highly Destabilizing | 1.0 | D | 0.852 | deleterious | N | 0.505592739 | None | None | N |
| A/E | 0.9903 | likely_pathogenic | 0.9842 | pathogenic | -2.163 | Highly Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | N |
| A/F | 0.8746 | likely_pathogenic | 0.8291 | pathogenic | -1.001 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| A/G | 0.4292 | ambiguous | 0.3744 | ambiguous | -1.68 | Destabilizing | 0.999 | D | 0.615 | neutral | N | 0.481448097 | None | None | N |
| A/H | 0.9912 | likely_pathogenic | 0.9876 | pathogenic | -1.974 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| A/I | 0.381 | ambiguous | 0.3235 | benign | -0.048 | Destabilizing | 0.994 | D | 0.717 | prob.delet. | None | None | None | None | N |
| A/K | 0.9959 | likely_pathogenic | 0.9927 | pathogenic | -1.374 | Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| A/L | 0.4453 | ambiguous | 0.3853 | ambiguous | -0.048 | Destabilizing | 0.994 | D | 0.659 | neutral | None | None | None | None | N |
| A/M | 0.6138 | likely_pathogenic | 0.5354 | ambiguous | -0.494 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/N | 0.9845 | likely_pathogenic | 0.9752 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.877 | deleterious | None | None | None | None | N |
| A/P | 0.9926 | likely_pathogenic | 0.9894 | pathogenic | -0.399 | Destabilizing | 1.0 | D | 0.849 | deleterious | N | 0.50533925 | None | None | N |
| A/Q | 0.9761 | likely_pathogenic | 0.9668 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.871 | deleterious | None | None | None | None | N |
| A/R | 0.9857 | likely_pathogenic | 0.9794 | pathogenic | -1.383 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/S | 0.4365 | ambiguous | 0.3871 | ambiguous | -2.144 | Highly Destabilizing | 0.998 | D | 0.619 | neutral | N | 0.486981505 | None | None | N |
| A/T | 0.358 | ambiguous | 0.2847 | benign | -1.841 | Destabilizing | 0.996 | D | 0.623 | neutral | N | 0.486474526 | None | None | N |
| A/V | 0.1471 | likely_benign | 0.1282 | benign | -0.399 | Destabilizing | 0.884 | D | 0.366 | neutral | N | 0.400016835 | None | None | N |
| A/W | 0.9942 | likely_pathogenic | 0.9915 | pathogenic | -1.615 | Destabilizing | 1.0 | D | 0.849 | deleterious | None | None | None | None | N |
| A/Y | 0.975 | likely_pathogenic | 0.9629 | pathogenic | -1.097 | Destabilizing | 1.0 | D | 0.892 | 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.