Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8885 | 26878;26879;26880 | chr2:178714005;178714004;178714003 | chr2:179578732;179578731;179578730 |
| N2AB | 8568 | 25927;25928;25929 | chr2:178714005;178714004;178714003 | chr2:179578732;179578731;179578730 |
| N2A | 7641 | 23146;23147;23148 | chr2:178714005;178714004;178714003 | chr2:179578732;179578731;179578730 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | rs2077087035  |
None | 0.008 | N | 0.483 | 0.041 | 0.110078149338 | 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 |
| S/A | rs2077087035 |
None | 0.008 | N | 0.483 | 0.041 | 0.110078149338 | gnomAD-4.0.0 | 1.8593E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.54302E-06 | 0 | 0 |
| S/C | rs951646862 |
None | 0.986 | N | 0.754 | 0.304 | 0.268660756437 | gnomAD-4.0.0 | 1.59179E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77393E-05 | None | 0 | 0 | 0 | 0 | 0 |
| S/F | rs951646862 |
None | 0.949 | N | 0.771 | 0.347 | 0.354610295913 | gnomAD-4.0.0 | 1.59179E-06 | None | None | None | None | N | None | 5.65867E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/P | None | None | 0.949 | N | 0.768 | 0.215 | 0.223847106136 | gnomAD-4.0.0 | 2.05288E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.6986E-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 | 0.0541 | likely_benign | 0.0542 | benign | -0.887 | Destabilizing | 0.008 | N | 0.483 | neutral | N | 0.412129623 | None | None | N |
| S/C | 0.1168 | likely_benign | 0.1431 | benign | -0.118 | Destabilizing | 0.986 | D | 0.754 | deleterious | N | 0.493324067 | None | None | N |
| S/D | 0.9594 | likely_pathogenic | 0.9721 | pathogenic | -0.754 | Destabilizing | 0.961 | D | 0.726 | prob.delet. | None | None | None | None | N |
| S/E | 0.9707 | likely_pathogenic | 0.9779 | pathogenic | -0.517 | Destabilizing | 0.775 | D | 0.719 | prob.delet. | None | None | None | None | N |
| S/F | 0.6184 | likely_pathogenic | 0.6896 | pathogenic | -0.746 | Destabilizing | 0.949 | D | 0.771 | deleterious | N | 0.50584786 | None | None | N |
| S/G | 0.1734 | likely_benign | 0.2094 | benign | -1.293 | Destabilizing | 0.633 | D | 0.697 | prob.neutral | None | None | None | None | N |
| S/H | 0.8913 | likely_pathogenic | 0.9127 | pathogenic | -1.313 | Destabilizing | 0.996 | D | 0.754 | deleterious | None | None | None | None | N |
| S/I | 0.4848 | ambiguous | 0.5634 | ambiguous | 0.175 | Stabilizing | 0.633 | D | 0.757 | deleterious | None | None | None | None | N |
| S/K | 0.9924 | likely_pathogenic | 0.994 | pathogenic | 0.702 | Stabilizing | 0.775 | D | 0.717 | prob.delet. | None | None | None | None | N |
| S/L | 0.2281 | likely_benign | 0.2839 | benign | 0.175 | Stabilizing | 0.633 | D | 0.754 | deleterious | None | None | None | None | N |
| S/M | 0.4765 | ambiguous | 0.5342 | ambiguous | -0.031 | Destabilizing | 0.989 | D | 0.761 | deleterious | None | None | None | None | N |
| S/N | 0.7392 | likely_pathogenic | 0.8057 | pathogenic | -0.01 | Destabilizing | 0.961 | D | 0.732 | prob.delet. | None | None | None | None | N |
| S/P | 0.8981 | likely_pathogenic | 0.9341 | pathogenic | -0.149 | Destabilizing | 0.949 | D | 0.768 | deleterious | N | 0.454757516 | None | None | N |
| S/Q | 0.9496 | likely_pathogenic | 0.9588 | pathogenic | 0.255 | Stabilizing | 0.961 | D | 0.761 | deleterious | None | None | None | None | N |
| S/R | 0.9816 | likely_pathogenic | 0.9845 | pathogenic | 0.17 | Stabilizing | 0.923 | D | 0.787 | deleterious | None | None | None | None | N |
| S/T | 0.1655 | likely_benign | 0.1998 | benign | 0.211 | Stabilizing | 0.722 | D | 0.682 | prob.neutral | N | 0.494900148 | None | None | N |
| S/V | 0.3638 | ambiguous | 0.4307 | ambiguous | -0.149 | Destabilizing | 0.044 | N | 0.697 | prob.neutral | None | None | None | None | N |
| S/W | 0.8209 | likely_pathogenic | 0.8628 | pathogenic | -0.869 | Destabilizing | 0.996 | D | 0.781 | deleterious | None | None | None | None | N |
| S/Y | 0.6279 | likely_pathogenic | 0.7001 | pathogenic | -0.417 | Destabilizing | 0.983 | D | 0.779 | deleterious | N | 0.506194577 | 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.