Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2612 | 8059;8060;8061 | chr2:178773130;178773129;178773128 | chr2:179637857;179637856;179637855 |
| N2AB | 2612 | 8059;8060;8061 | chr2:178773130;178773129;178773128 | chr2:179637857;179637856;179637855 |
| N2A | 2612 | 8059;8060;8061 | chr2:178773130;178773129;178773128 | chr2:179637857;179637856;179637855 |
| N2B | 2566 | 7921;7922;7923 | chr2:178773130;178773129;178773128 | chr2:179637857;179637856;179637855 |
| Novex-1 | 2566 | 7921;7922;7923 | chr2:178773130;178773129;178773128 | chr2:179637857;179637856;179637855 |
| Novex-2 | 2566 | 7921;7922;7923 | chr2:178773130;178773129;178773128 | chr2:179637857;179637856;179637855 |
| Novex-3 | 2612 | 8059;8060;8061 | chr2:178773130;178773129;178773128 | chr2:179637857;179637856;179637855 |
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 | rs770391975  |
-0.881 | 0.002 | D | 0.403 | 0.175 | 0.32980341726 | gnomAD-2.1.1 | 3.99E-06 | None | None | None | None | N | None | 0 | 2.9E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/F | rs770391975 |
-0.881 | 0.002 | D | 0.403 | 0.175 | 0.32980341726 | gnomAD-4.0.0 | 4.10506E-06 | None | None | None | None | N | None | 0 | 2.23714E-05 | None | 0 | 0 | None | 0 | 0 | 3.59748E-06 | 1.15961E-05 | 0 |
| S/P | rs558027818 |
-0.316 | 0.497 | D | 0.716 | 0.23 | 0.223847106136 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07383E-04 | 0 |
| S/P | rs558027818 |
-0.316 | 0.497 | D | 0.716 | 0.23 | 0.223847106136 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| S/P | rs558027818 |
-0.316 | 0.497 | D | 0.716 | 0.23 | 0.223847106136 | gnomAD-4.0.0 | 6.56737E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 2.07555E-04 | 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 | 0.0957 | likely_benign | 0.0924 | benign | -0.528 | Destabilizing | 0.001 | N | 0.255 | neutral | N | 0.506758097 | None | None | N |
| S/C | 0.1413 | likely_benign | 0.1308 | benign | -0.33 | Destabilizing | 0.883 | D | 0.698 | prob.neutral | D | 0.6053089 | None | None | N |
| S/D | 0.4038 | ambiguous | 0.3792 | ambiguous | -0.206 | Destabilizing | 0.567 | D | 0.585 | neutral | None | None | None | None | N |
| S/E | 0.3641 | ambiguous | 0.3397 | benign | -0.281 | Destabilizing | 0.272 | N | 0.565 | neutral | None | None | None | None | N |
| S/F | 0.2435 | likely_benign | 0.2059 | benign | -0.985 | Destabilizing | 0.002 | N | 0.403 | neutral | D | 0.562174988 | None | None | N |
| S/G | 0.1516 | likely_benign | 0.1404 | benign | -0.681 | Destabilizing | 0.157 | N | 0.547 | neutral | None | None | None | None | N |
| S/H | 0.3201 | likely_benign | 0.2999 | benign | -1.237 | Destabilizing | 0.968 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/I | 0.2048 | likely_benign | 0.1696 | benign | -0.243 | Destabilizing | 0.396 | N | 0.705 | prob.neutral | None | None | None | None | N |
| S/K | 0.5796 | likely_pathogenic | 0.5259 | ambiguous | -0.626 | Destabilizing | 0.272 | N | 0.568 | neutral | None | None | None | None | N |
| S/L | 0.1694 | likely_benign | 0.1411 | benign | -0.243 | Destabilizing | 0.157 | N | 0.606 | neutral | None | None | None | None | N |
| S/M | 0.2373 | likely_benign | 0.2145 | benign | 0.171 | Stabilizing | 0.909 | D | 0.705 | prob.neutral | None | None | None | None | N |
| S/N | 0.1741 | likely_benign | 0.1499 | benign | -0.375 | Destabilizing | 0.726 | D | 0.615 | neutral | None | None | None | None | N |
| S/P | 0.8355 | likely_pathogenic | 0.779 | pathogenic | -0.308 | Destabilizing | 0.497 | N | 0.716 | prob.delet. | D | 0.603361187 | None | None | N |
| S/Q | 0.4339 | ambiguous | 0.4145 | ambiguous | -0.689 | Destabilizing | 0.726 | D | 0.631 | neutral | None | None | None | None | N |
| S/R | 0.4684 | ambiguous | 0.4152 | ambiguous | -0.384 | Destabilizing | 0.567 | D | 0.718 | prob.delet. | None | None | None | None | N |
| S/T | 0.0788 | likely_benign | 0.0725 | benign | -0.47 | Destabilizing | 0.124 | N | 0.561 | neutral | N | 0.450235055 | None | None | N |
| S/V | 0.2012 | likely_benign | 0.176 | benign | -0.308 | Destabilizing | 0.157 | N | 0.65 | neutral | None | None | None | None | N |
| S/W | 0.3731 | ambiguous | 0.3373 | benign | -0.94 | Destabilizing | 0.968 | D | 0.747 | deleterious | None | None | None | None | N |
| S/Y | 0.227 | likely_benign | 0.194 | benign | -0.686 | Destabilizing | 0.331 | N | 0.743 | deleterious | D | 0.603361187 | 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.