Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2129 | 6610;6611;6612 | chr2:178775479;178775478;178775477 | chr2:179640206;179640205;179640204 |
| N2AB | 2129 | 6610;6611;6612 | chr2:178775479;178775478;178775477 | chr2:179640206;179640205;179640204 |
| N2A | 2129 | 6610;6611;6612 | chr2:178775479;178775478;178775477 | chr2:179640206;179640205;179640204 |
| N2B | 2083 | 6472;6473;6474 | chr2:178775479;178775478;178775477 | chr2:179640206;179640205;179640204 |
| Novex-1 | 2083 | 6472;6473;6474 | chr2:178775479;178775478;178775477 | chr2:179640206;179640205;179640204 |
| Novex-2 | 2083 | 6472;6473;6474 | chr2:178775479;178775478;178775477 | chr2:179640206;179640205;179640204 |
| Novex-3 | 2129 | 6610;6611;6612 | chr2:178775479;178775478;178775477 | chr2:179640206;179640205;179640204 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | rs1216558940  |
-1.111 | 1.0 | N | 0.653 | 0.472 | 0.3884951 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/A | rs1216558940 |
-1.111 | 1.0 | N | 0.653 | 0.472 | 0.3884951 | gnomAD-4.0.0 | 1.59075E-06 | None | None | None | None | N | None | 0 | 2.28749E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.5439 | ambiguous | 0.7391 | pathogenic | -1.348 | Destabilizing | 1.0 | D | 0.653 | neutral | N | 0.4970954 | None | None | N |
| P/C | 0.9809 | likely_pathogenic | 0.9928 | pathogenic | -0.753 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| P/D | 0.959 | likely_pathogenic | 0.981 | pathogenic | -1.13 | Destabilizing | 1.0 | D | 0.732 | prob.delet. | None | None | None | None | N |
| P/E | 0.8852 | likely_pathogenic | 0.9501 | pathogenic | -1.105 | Destabilizing | 1.0 | D | 0.74 | deleterious | None | None | None | None | N |
| P/F | 0.9853 | likely_pathogenic | 0.9947 | pathogenic | -0.978 | Destabilizing | 1.0 | D | 0.715 | prob.delet. | None | None | None | None | N |
| P/G | 0.8889 | likely_pathogenic | 0.947 | pathogenic | -1.666 | Destabilizing | 1.0 | D | 0.755 | deleterious | None | None | None | None | N |
| P/H | 0.8948 | likely_pathogenic | 0.9569 | pathogenic | -1.111 | Destabilizing | 1.0 | D | 0.723 | prob.delet. | N | 0.5088606 | None | None | N |
| P/I | 0.9151 | likely_pathogenic | 0.9672 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| P/K | 0.9073 | likely_pathogenic | 0.962 | pathogenic | -1.092 | Destabilizing | 1.0 | D | 0.733 | prob.delet. | None | None | None | None | N |
| P/L | 0.7123 | likely_pathogenic | 0.8584 | pathogenic | -0.569 | Destabilizing | 1.0 | D | 0.748 | deleterious | N | 0.5084001 | None | None | N |
| P/M | 0.9163 | likely_pathogenic | 0.9647 | pathogenic | -0.444 | Destabilizing | 1.0 | D | 0.722 | prob.delet. | None | None | None | None | N |
| P/N | 0.945 | likely_pathogenic | 0.9747 | pathogenic | -0.974 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| P/Q | 0.8171 | likely_pathogenic | 0.927 | pathogenic | -1.104 | Destabilizing | 1.0 | D | 0.757 | deleterious | None | None | None | None | N |
| P/R | 0.8337 | likely_pathogenic | 0.9271 | pathogenic | -0.581 | Destabilizing | 1.0 | D | 0.76 | deleterious | N | 0.4976091 | None | None | N |
| P/S | 0.8155 | likely_pathogenic | 0.9214 | pathogenic | -1.477 | Destabilizing | 1.0 | D | 0.751 | deleterious | N | 0.4864764 | None | None | N |
| P/T | 0.7255 | likely_pathogenic | 0.8784 | pathogenic | -1.344 | Destabilizing | 1.0 | D | 0.745 | deleterious | N | 0.50119793 | None | None | N |
| P/V | 0.816 | likely_pathogenic | 0.9182 | pathogenic | -0.795 | Destabilizing | 1.0 | D | 0.735 | prob.delet. | None | None | None | None | N |
| P/W | 0.9895 | likely_pathogenic | 0.9965 | pathogenic | -1.209 | Destabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| P/Y | 0.9793 | likely_pathogenic | 0.9924 | pathogenic | -0.882 | Destabilizing | 1.0 | D | 0.72 | prob.delet. | 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.