Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9374 | 28345;28346;28347 | chr2:178711116;178711115;178711114 | chr2:179575843;179575842;179575841 |
| N2AB | 9057 | 27394;27395;27396 | chr2:178711116;178711115;178711114 | chr2:179575843;179575842;179575841 |
| N2A | 8130 | 24613;24614;24615 | chr2:178711116;178711115;178711114 | chr2:179575843;179575842;179575841 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs886038863  |
None | 0.826 | None | 0.538 | 0.279 | 0.265929055128 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| T/A | rs886038863 |
None | 0.826 | None | 0.538 | 0.279 | 0.265929055128 | gnomAD-4.0.0 | 5.07447E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.0246E-06 | 0 | 0 |
| T/I | rs878939055 |
None | 0.852 | None | 0.583 | 0.363 | 0.444305618086 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| T/I | rs878939055 |
None | 0.852 | None | 0.583 | 0.363 | 0.444305618086 | gnomAD-4.0.0 | 1.5917E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85909E-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 | 0.0951 | likely_benign | 0.0868 | benign | -1.464 | Destabilizing | 0.826 | D | 0.538 | neutral | None | None | None | None | N |
| T/C | 0.492 | ambiguous | 0.4864 | ambiguous | -0.943 | Destabilizing | 0.999 | D | 0.622 | neutral | None | None | None | None | N |
| T/D | 0.476 | ambiguous | 0.4862 | ambiguous | -0.374 | Destabilizing | 0.991 | D | 0.641 | neutral | None | None | None | None | N |
| T/E | 0.2991 | likely_benign | 0.2997 | benign | -0.284 | Destabilizing | 0.939 | D | 0.584 | neutral | None | None | None | None | N |
| T/F | 0.1893 | likely_benign | 0.1989 | benign | -1.461 | Destabilizing | 0.991 | D | 0.705 | prob.neutral | None | None | None | None | N |
| T/G | 0.3517 | ambiguous | 0.3377 | benign | -1.764 | Destabilizing | 0.969 | D | 0.627 | neutral | None | None | None | None | N |
| T/H | 0.2184 | likely_benign | 0.2372 | benign | -1.823 | Destabilizing | 0.999 | D | 0.671 | neutral | None | None | None | None | N |
| T/I | 0.1346 | likely_benign | 0.126 | benign | -0.714 | Destabilizing | 0.852 | D | 0.583 | neutral | None | None | None | None | N |
| T/K | 0.1978 | likely_benign | 0.2228 | benign | -0.494 | Destabilizing | 0.852 | D | 0.573 | neutral | None | None | None | None | N |
| T/L | 0.0961 | likely_benign | 0.0939 | benign | -0.714 | Destabilizing | 0.759 | D | 0.544 | neutral | None | None | None | None | N |
| T/M | 0.0932 | likely_benign | 0.0874 | benign | -0.444 | Destabilizing | 0.991 | D | 0.65 | neutral | None | None | None | None | N |
| T/N | 0.1566 | likely_benign | 0.1547 | benign | -0.671 | Destabilizing | 0.991 | D | 0.625 | neutral | None | None | None | None | N |
| T/P | 0.7285 | likely_pathogenic | 0.7593 | pathogenic | -0.936 | Destabilizing | 0.996 | D | 0.663 | neutral | None | None | None | None | N |
| T/Q | 0.2047 | likely_benign | 0.2164 | benign | -0.765 | Destabilizing | 0.982 | D | 0.666 | neutral | None | None | None | None | N |
| T/R | 0.1518 | likely_benign | 0.1734 | benign | -0.418 | Destabilizing | 0.035 | N | 0.438 | neutral | None | None | None | None | N |
| T/S | 0.1097 | likely_benign | 0.1045 | benign | -1.14 | Destabilizing | 0.959 | D | 0.591 | neutral | None | None | None | None | N |
| T/V | 0.1185 | likely_benign | 0.1099 | benign | -0.936 | Destabilizing | 0.079 | N | 0.301 | neutral | None | None | None | None | N |
| T/W | 0.5925 | likely_pathogenic | 0.6539 | pathogenic | -1.296 | Destabilizing | 0.999 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/Y | 0.2531 | likely_benign | 0.2764 | benign | -1.052 | Destabilizing | 0.997 | D | 0.701 | prob.neutral | 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.