Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 30456 | 91591;91592;91593 | chr2:178551165;178551164;178551163 | chr2:179415892;179415891;179415890 |
| N2AB | 28815 | 86668;86669;86670 | chr2:178551165;178551164;178551163 | chr2:179415892;179415891;179415890 |
| N2A | 27888 | 83887;83888;83889 | chr2:178551165;178551164;178551163 | chr2:179415892;179415891;179415890 |
| N2B | 21391 | 64396;64397;64398 | chr2:178551165;178551164;178551163 | chr2:179415892;179415891;179415890 |
| Novex-1 | 21516 | 64771;64772;64773 | chr2:178551165;178551164;178551163 | chr2:179415892;179415891;179415890 |
| Novex-2 | 21583 | 64972;64973;64974 | chr2:178551165;178551164;178551163 | chr2:179415892;179415891;179415890 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/D | rs973729733  |
None | 0.497 | N | 0.808 | 0.316 | 0.339793275041 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.42E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/D | rs973729733 |
None | 0.497 | N | 0.808 | 0.316 | 0.339793275041 | gnomAD-4.0.0 | 6.57523E-06 | None | None | None | None | N | None | 2.41558E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs773655064 |
-1.136 | 0.055 | N | 0.591 | 0.203 | 0.278968121808 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| G/S | rs773655064 |
-1.136 | 0.055 | N | 0.591 | 0.203 | 0.278968121808 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| G/S | rs773655064 |
-1.136 | 0.055 | N | 0.591 | 0.203 | 0.278968121808 | gnomAD-4.0.0 | 1.85939E-06 | None | None | None | None | N | None | 4.0078E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| G/A | 0.0747 | likely_benign | 0.0816 | benign | -0.733 | Destabilizing | None | N | 0.291 | neutral | N | 0.493176931 | None | None | N |
| G/C | 0.3221 | likely_benign | 0.3396 | benign | -1.164 | Destabilizing | 0.883 | D | 0.84 | deleterious | N | 0.508118089 | None | None | N |
| G/D | 0.8744 | likely_pathogenic | 0.8825 | pathogenic | -0.896 | Destabilizing | 0.497 | N | 0.808 | deleterious | N | 0.503305469 | None | None | N |
| G/E | 0.8794 | likely_pathogenic | 0.884 | pathogenic | -0.929 | Destabilizing | 0.567 | D | 0.805 | deleterious | None | None | None | None | N |
| G/F | 0.7885 | likely_pathogenic | 0.7823 | pathogenic | -0.997 | Destabilizing | 0.726 | D | 0.852 | deleterious | None | None | None | None | N |
| G/H | 0.8104 | likely_pathogenic | 0.8042 | pathogenic | -1.16 | Destabilizing | 0.968 | D | 0.78 | deleterious | None | None | None | None | N |
| G/I | 0.8075 | likely_pathogenic | 0.8195 | pathogenic | -0.337 | Destabilizing | 0.567 | D | 0.846 | deleterious | None | None | None | None | N |
| G/K | 0.9357 | likely_pathogenic | 0.9329 | pathogenic | -0.932 | Destabilizing | 0.567 | D | 0.807 | deleterious | None | None | None | None | N |
| G/L | 0.6734 | likely_pathogenic | 0.68 | pathogenic | -0.337 | Destabilizing | 0.157 | N | 0.816 | deleterious | None | None | None | None | N |
| G/M | 0.7051 | likely_pathogenic | 0.7189 | pathogenic | -0.528 | Destabilizing | 0.909 | D | 0.839 | deleterious | None | None | None | None | N |
| G/N | 0.6713 | likely_pathogenic | 0.674 | pathogenic | -0.723 | Destabilizing | 0.726 | D | 0.649 | neutral | None | None | None | None | N |
| G/P | 0.9913 | likely_pathogenic | 0.9921 | pathogenic | -0.429 | Destabilizing | 0.567 | D | 0.789 | deleterious | None | None | None | None | N |
| G/Q | 0.7914 | likely_pathogenic | 0.783 | pathogenic | -0.889 | Destabilizing | 0.726 | D | 0.803 | deleterious | None | None | None | None | N |
| G/R | 0.8342 | likely_pathogenic | 0.8331 | pathogenic | -0.733 | Destabilizing | 0.497 | N | 0.805 | deleterious | N | 0.490517132 | None | None | N |
| G/S | 0.1297 | likely_benign | 0.1369 | benign | -1.083 | Destabilizing | 0.055 | N | 0.591 | neutral | N | 0.517502941 | None | None | N |
| G/T | 0.3166 | likely_benign | 0.3449 | ambiguous | -1.025 | Destabilizing | 0.157 | N | 0.787 | deleterious | None | None | None | None | N |
| G/V | 0.5877 | likely_pathogenic | 0.6179 | pathogenic | -0.429 | Destabilizing | 0.124 | N | 0.811 | deleterious | D | 0.542894567 | None | None | N |
| G/W | 0.8138 | likely_pathogenic | 0.8211 | pathogenic | -1.282 | Destabilizing | 0.968 | D | 0.783 | deleterious | None | None | None | None | N |
| G/Y | 0.7632 | likely_pathogenic | 0.757 | pathogenic | -0.854 | Destabilizing | 0.726 | D | 0.859 | 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.