Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3357 | 10294;10295;10296 | chr2:178764222;178764221;178764220 | chr2:179628949;179628948;179628947 |
| N2AB | 3357 | 10294;10295;10296 | chr2:178764222;178764221;178764220 | chr2:179628949;179628948;179628947 |
| N2A | 3357 | 10294;10295;10296 | chr2:178764222;178764221;178764220 | chr2:179628949;179628948;179628947 |
| N2B | 3311 | 10156;10157;10158 | chr2:178764222;178764221;178764220 | chr2:179628949;179628948;179628947 |
| Novex-1 | 3311 | 10156;10157;10158 | chr2:178764222;178764221;178764220 | chr2:179628949;179628948;179628947 |
| Novex-2 | 3311 | 10156;10157;10158 | chr2:178764222;178764221;178764220 | chr2:179628949;179628948;179628947 |
| Novex-3 | 3357 | 10294;10295;10296 | chr2:178764222;178764221;178764220 | chr2:179628949;179628948;179628947 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/F | rs886042377  |
None | 0.996 | N | 0.457 | 0.283 | 0.481616744073 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 1.30907E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs886042377 |
None | 0.996 | N | 0.457 | 0.283 | 0.481616744073 | gnomAD-4.0.0 | 3.09792E-06 | None | None | None | None | N | None | 0 | 5.00033E-05 | None | 0 | 0 | None | 0 | 0 | 8.47471E-07 | 0 | 1.60036E-05 |
| S/T | None | None | 0.134 | N | 0.199 | 0.157 | 0.154104182512 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0732 | likely_benign | 0.0635 | benign | -0.554 | Destabilizing | 0.826 | D | 0.22 | neutral | N | 0.488227049 | None | None | N |
| S/C | 0.1582 | likely_benign | 0.1158 | benign | -0.376 | Destabilizing | 0.077 | N | 0.289 | neutral | N | 0.520222561 | None | None | N |
| S/D | 0.3704 | ambiguous | 0.3626 | ambiguous | -0.2 | Destabilizing | 0.884 | D | 0.271 | neutral | None | None | None | None | N |
| S/E | 0.3926 | ambiguous | 0.3851 | ambiguous | -0.276 | Destabilizing | 0.939 | D | 0.267 | neutral | None | None | None | None | N |
| S/F | 0.233 | likely_benign | 0.193 | benign | -0.974 | Destabilizing | 0.996 | D | 0.457 | neutral | N | 0.497387115 | None | None | N |
| S/G | 0.111 | likely_benign | 0.0982 | benign | -0.711 | Destabilizing | 0.863 | D | 0.276 | neutral | None | None | None | None | N |
| S/H | 0.3041 | likely_benign | 0.2795 | benign | -1.218 | Destabilizing | 0.991 | D | 0.363 | neutral | None | None | None | None | N |
| S/I | 0.1886 | likely_benign | 0.1497 | benign | -0.262 | Destabilizing | 0.982 | D | 0.461 | neutral | None | None | None | None | N |
| S/K | 0.4067 | ambiguous | 0.3578 | ambiguous | -0.683 | Destabilizing | 0.884 | D | 0.252 | neutral | None | None | None | None | N |
| S/L | 0.1029 | likely_benign | 0.085 | benign | -0.262 | Destabilizing | 0.939 | D | 0.444 | neutral | None | None | None | None | N |
| S/M | 0.2381 | likely_benign | 0.1867 | benign | 0.113 | Stabilizing | 0.997 | D | 0.362 | neutral | None | None | None | None | N |
| S/N | 0.1557 | likely_benign | 0.1447 | benign | -0.425 | Destabilizing | 0.17 | N | 0.221 | neutral | None | None | None | None | N |
| S/P | 0.1888 | likely_benign | 0.2104 | benign | -0.33 | Destabilizing | 0.996 | D | 0.373 | neutral | N | 0.489591278 | None | None | N |
| S/Q | 0.3803 | ambiguous | 0.3537 | ambiguous | -0.732 | Destabilizing | 0.982 | D | 0.291 | neutral | None | None | None | None | N |
| S/R | 0.3082 | likely_benign | 0.2677 | benign | -0.413 | Destabilizing | 0.046 | N | 0.282 | neutral | None | None | None | None | N |
| S/T | 0.0906 | likely_benign | 0.0767 | benign | -0.526 | Destabilizing | 0.134 | N | 0.199 | neutral | N | 0.475724189 | None | None | N |
| S/V | 0.1811 | likely_benign | 0.1393 | benign | -0.33 | Destabilizing | 0.939 | D | 0.427 | neutral | None | None | None | None | N |
| S/W | 0.3287 | likely_benign | 0.2927 | benign | -0.922 | Destabilizing | 0.999 | D | 0.495 | neutral | None | None | None | None | N |
| S/Y | 0.2022 | likely_benign | 0.1722 | benign | -0.68 | Destabilizing | 0.996 | D | 0.455 | neutral | N | 0.505723341 | 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.