Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29053 | 87382;87383;87384 | chr2:178558197;178558196;178558195 | chr2:179422924;179422923;179422922 |
| N2AB | 27412 | 82459;82460;82461 | chr2:178558197;178558196;178558195 | chr2:179422924;179422923;179422922 |
| N2A | 26485 | 79678;79679;79680 | chr2:178558197;178558196;178558195 | chr2:179422924;179422923;179422922 |
| N2B | 19988 | 60187;60188;60189 | chr2:178558197;178558196;178558195 | chr2:179422924;179422923;179422922 |
| Novex-1 | 20113 | 60562;60563;60564 | chr2:178558197;178558196;178558195 | chr2:179422924;179422923;179422922 |
| Novex-2 | 20180 | 60763;60764;60765 | chr2:178558197;178558196;178558195 | chr2:179422924;179422923;179422922 |
| 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 | rs573319412  |
0.036 | 0.998 | N | 0.715 | 0.344 | 0.334659703779 | gnomAD-2.1.1 | 8.58E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 9.56992E-04 | None | 0 | None | 0 | 3.6E-05 | 0 |
| T/I | rs573319412 |
0.036 | 0.998 | N | 0.715 | 0.344 | 0.334659703779 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.92456E-04 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| T/I | rs573319412 |
0.036 | 0.998 | N | 0.715 | 0.344 | 0.334659703779 | gnomAD-4.0.0 | 2.29715E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.56904E-04 | None | 0 | 0 | 1.69599E-05 | 0 | 1.60328E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.112 | likely_benign | 0.1167 | benign | -0.883 | Destabilizing | 0.996 | D | 0.469 | neutral | N | 0.510888321 | None | None | N |
| T/C | 0.4492 | ambiguous | 0.4826 | ambiguous | -0.414 | Destabilizing | 1.0 | D | 0.771 | deleterious | None | None | None | None | N |
| T/D | 0.6316 | likely_pathogenic | 0.6558 | pathogenic | -0.686 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/E | 0.4968 | ambiguous | 0.5046 | ambiguous | -0.522 | Destabilizing | 1.0 | D | 0.731 | prob.delet. | None | None | None | None | N |
| T/F | 0.4353 | ambiguous | 0.4726 | ambiguous | -0.656 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| T/G | 0.4346 | ambiguous | 0.4667 | ambiguous | -1.281 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/H | 0.4005 | ambiguous | 0.4021 | ambiguous | -1.461 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| T/I | 0.2077 | likely_benign | 0.2393 | benign | 0.144 | Stabilizing | 0.998 | D | 0.715 | prob.delet. | N | 0.460540733 | None | None | N |
| T/K | 0.3526 | ambiguous | 0.3508 | ambiguous | -0.339 | Destabilizing | 1.0 | D | 0.719 | prob.delet. | None | None | None | None | N |
| T/L | 0.1425 | likely_benign | 0.1468 | benign | 0.144 | Stabilizing | 0.994 | D | 0.525 | neutral | None | None | None | None | N |
| T/M | 0.1015 | likely_benign | 0.106 | benign | 0.157 | Stabilizing | 0.985 | D | 0.451 | neutral | None | None | None | None | N |
| T/N | 0.2248 | likely_benign | 0.2436 | benign | -0.86 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | N | 0.479274548 | None | None | N |
| T/P | 0.5761 | likely_pathogenic | 0.5791 | pathogenic | -0.165 | Destabilizing | 1.0 | D | 0.81 | deleterious | N | 0.476178314 | None | None | N |
| T/Q | 0.3259 | likely_benign | 0.3293 | benign | -0.663 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| T/R | 0.2871 | likely_benign | 0.2791 | benign | -0.54 | Destabilizing | 1.0 | D | 0.809 | deleterious | None | None | None | None | N |
| T/S | 0.1603 | likely_benign | 0.1701 | benign | -1.125 | Destabilizing | 0.998 | D | 0.441 | neutral | N | 0.497860308 | None | None | N |
| T/V | 0.1499 | likely_benign | 0.1554 | benign | -0.165 | Destabilizing | 0.994 | D | 0.443 | neutral | None | None | None | None | N |
| T/W | 0.7821 | likely_pathogenic | 0.796 | pathogenic | -0.791 | Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| T/Y | 0.4668 | ambiguous | 0.489 | ambiguous | -0.408 | Destabilizing | 1.0 | D | 0.831 | 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.