Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5284 | 16075;16076;16077 | chr2:178733443;178733442;178733441 | chr2:179598170;179598169;179598168 |
| N2AB | 4967 | 15124;15125;15126 | chr2:178733443;178733442;178733441 | chr2:179598170;179598169;179598168 |
| N2A | 4040 | 12343;12344;12345 | chr2:178733443;178733442;178733441 | chr2:179598170;179598169;179598168 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | rs1327029023  |
-1.642 | 0.977 | D | 0.673 | 0.563 | 0.741158856741 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| V/A | rs1327029023 |
-1.642 | 0.977 | D | 0.673 | 0.563 | 0.741158856741 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 2.28645E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| V/G | rs1327029023 |
-2.428 | 0.999 | D | 0.823 | 0.691 | 0.944711328919 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.27E-05 | None | 0 | 0 | 0 |
| V/G | rs1327029023 |
-2.428 | 0.999 | D | 0.823 | 0.691 | 0.944711328919 | gnomAD-4.0.0 | 1.59121E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 1.43279E-05 | 0 |
| V/M | rs66839174 |
0.107 | 0.997 | D | 0.708 | 0.457 | None | gnomAD-2.1.1 | 1.15733E-03 | None | None | None | None | N | None | 1.23181E-02 | 6.78848E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 2.81057E-04 |
| V/M | rs66839174 |
0.107 | 0.997 | D | 0.708 | 0.457 | None | gnomAD-3.1.2 | 3.63452E-03 | None | None | None | None | N | None | 1.23311E-02 | 2.42305E-03 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.39234E-03 |
| V/M | rs66839174 |
0.107 | 0.997 | D | 0.708 | 0.457 | None | 1000 genomes | 3.59425E-03 | None | None | None | None | N | None | 1.13E-02 | 4.3E-03 | None | None | 0 | 0 | None | None | None | 0 | None |
| V/M | rs66839174 |
0.107 | 0.997 | D | 0.708 | 0.457 | None | gnomAD-4.0.0 | 6.51248E-04 | None | None | None | None | N | None | 1.22881E-02 | 1.16647E-03 | None | 0 | 0 | None | 0 | 4.95376E-04 | 2.54282E-06 | 1.09801E-05 | 8.32266E-04 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| V/A | 0.4395 | ambiguous | 0.5212 | ambiguous | -1.969 | Destabilizing | 0.977 | D | 0.673 | neutral | D | 0.533141555 | None | None | N |
| V/C | 0.9446 | likely_pathogenic | 0.9596 | pathogenic | -1.558 | Destabilizing | 1.0 | D | 0.789 | deleterious | None | None | None | None | N |
| V/D | 0.9955 | likely_pathogenic | 0.9961 | pathogenic | -2.431 | Highly Destabilizing | 0.999 | D | 0.855 | deleterious | None | None | None | None | N |
| V/E | 0.9861 | likely_pathogenic | 0.9881 | pathogenic | -2.203 | Highly Destabilizing | 0.999 | D | 0.822 | deleterious | D | 0.699880432 | None | None | N |
| V/F | 0.6974 | likely_pathogenic | 0.7917 | pathogenic | -1.128 | Destabilizing | 0.323 | N | 0.517 | neutral | None | None | None | None | N |
| V/G | 0.8284 | likely_pathogenic | 0.8527 | pathogenic | -2.529 | Highly Destabilizing | 0.999 | D | 0.823 | deleterious | D | 0.706854457 | None | None | N |
| V/H | 0.9947 | likely_pathogenic | 0.9965 | pathogenic | -2.279 | Highly Destabilizing | 1.0 | D | 0.832 | deleterious | None | None | None | None | N |
| V/I | 0.111 | likely_benign | 0.1288 | benign | -0.41 | Destabilizing | 0.271 | N | 0.229 | neutral | None | None | None | None | N |
| V/K | 0.991 | likely_pathogenic | 0.9926 | pathogenic | -1.689 | Destabilizing | 0.999 | D | 0.822 | deleterious | None | None | None | None | N |
| V/L | 0.5886 | likely_pathogenic | 0.6649 | pathogenic | -0.41 | Destabilizing | 0.817 | D | 0.459 | neutral | D | 0.658543572 | None | None | N |
| V/M | 0.5098 | ambiguous | 0.6816 | pathogenic | -0.482 | Destabilizing | 0.997 | D | 0.708 | prob.delet. | D | 0.753146976 | None | None | N |
| V/N | 0.9839 | likely_pathogenic | 0.9886 | pathogenic | -2.03 | Highly Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| V/P | 0.987 | likely_pathogenic | 0.9886 | pathogenic | -0.901 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| V/Q | 0.9836 | likely_pathogenic | 0.9875 | pathogenic | -1.843 | Destabilizing | 0.999 | D | 0.823 | deleterious | None | None | None | None | N |
| V/R | 0.9822 | likely_pathogenic | 0.9846 | pathogenic | -1.563 | Destabilizing | 0.999 | D | 0.844 | deleterious | None | None | None | None | N |
| V/S | 0.8573 | likely_pathogenic | 0.8942 | pathogenic | -2.683 | Highly Destabilizing | 0.999 | D | 0.806 | deleterious | None | None | None | None | N |
| V/T | 0.6392 | likely_pathogenic | 0.7041 | pathogenic | -2.3 | Highly Destabilizing | 0.993 | D | 0.711 | prob.delet. | None | None | None | None | N |
| V/W | 0.9951 | likely_pathogenic | 0.9975 | pathogenic | -1.651 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| V/Y | 0.9795 | likely_pathogenic | 0.9878 | pathogenic | -1.24 | Destabilizing | 0.991 | D | 0.808 | 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.