Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 32458 | 97597;97598;97599 | chr2:178542384;178542383;178542382 | chr2:179407111;179407110;179407109 |
| N2AB | 30817 | 92674;92675;92676 | chr2:178542384;178542383;178542382 | chr2:179407111;179407110;179407109 |
| N2A | 29890 | 89893;89894;89895 | chr2:178542384;178542383;178542382 | chr2:179407111;179407110;179407109 |
| N2B | 23393 | 70402;70403;70404 | chr2:178542384;178542383;178542382 | chr2:179407111;179407110;179407109 |
| Novex-1 | 23518 | 70777;70778;70779 | chr2:178542384;178542383;178542382 | chr2:179407111;179407110;179407109 |
| Novex-2 | 23585 | 70978;70979;70980 | chr2:178542384;178542383;178542382 | chr2:179407111;179407110;179407109 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | rs1362121048  |
-0.725 | 0.625 | D | 0.383 | 0.171 | 0.269111216191 | 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 |
| T/A | rs1362121048 |
-0.725 | 0.625 | D | 0.383 | 0.171 | 0.269111216191 | gnomAD-4.0.0 | 1.59154E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77639E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | None | None | 0.954 | N | 0.507 | 0.346 | 0.332902724076 | gnomAD-4.0.0 | 1.36853E-06 | None | None | None | None | N | None | 2.98846E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65678E-05 |
| T/M | rs749501290 |
-0.033 | 0.672 | N | 0.361 | 0.214 | 0.331876078066 | gnomAD-2.1.1 | 7.15E-06 | None | None | None | None | N | None | 4.14E-05 | 2.83E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/M | rs749501290 |
-0.033 | 0.672 | N | 0.361 | 0.214 | 0.331876078066 | 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 |
| T/M | rs749501290 |
-0.033 | 0.672 | N | 0.361 | 0.214 | 0.331876078066 | gnomAD-4.0.0 | 1.85934E-06 | None | None | None | None | N | None | 1.33568E-05 | 1.66711E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.60133E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0909 | likely_benign | 0.0774 | benign | -1.054 | Destabilizing | 0.625 | D | 0.383 | neutral | D | 0.522868688 | None | None | N |
| T/C | 0.3311 | likely_benign | 0.2424 | benign | -0.601 | Destabilizing | 0.016 | N | 0.309 | neutral | None | None | None | None | N |
| T/D | 0.5754 | likely_pathogenic | 0.4979 | ambiguous | -0.232 | Destabilizing | 0.991 | D | 0.553 | neutral | None | None | None | None | N |
| T/E | 0.4529 | ambiguous | 0.3977 | ambiguous | -0.114 | Destabilizing | 0.974 | D | 0.539 | neutral | None | None | None | None | N |
| T/F | 0.2979 | likely_benign | 0.2031 | benign | -0.93 | Destabilizing | 0.949 | D | 0.593 | neutral | None | None | None | None | N |
| T/G | 0.2606 | likely_benign | 0.1925 | benign | -1.411 | Destabilizing | 0.915 | D | 0.531 | neutral | None | None | None | None | N |
| T/H | 0.2699 | likely_benign | 0.216 | benign | -1.485 | Destabilizing | 0.998 | D | 0.593 | neutral | None | None | None | None | N |
| T/I | 0.1741 | likely_benign | 0.1306 | benign | -0.155 | Destabilizing | 0.728 | D | 0.499 | neutral | None | None | None | None | N |
| T/K | 0.2737 | likely_benign | 0.243 | benign | -0.373 | Destabilizing | 0.954 | D | 0.507 | neutral | N | 0.475207126 | None | None | N |
| T/L | 0.1086 | likely_benign | 0.0847 | benign | -0.155 | Destabilizing | 0.275 | N | 0.423 | neutral | None | None | None | None | N |
| T/M | 0.0878 | likely_benign | 0.0766 | benign | -0.086 | Destabilizing | 0.672 | D | 0.361 | neutral | N | 0.494173982 | None | None | N |
| T/N | 0.1621 | likely_benign | 0.1265 | benign | -0.718 | Destabilizing | 0.991 | D | 0.515 | neutral | None | None | None | None | N |
| T/P | 0.6423 | likely_pathogenic | 0.5511 | ambiguous | -0.422 | Destabilizing | 0.989 | D | 0.557 | neutral | N | 0.488894063 | None | None | N |
| T/Q | 0.2384 | likely_benign | 0.2087 | benign | -0.646 | Destabilizing | 0.974 | D | 0.547 | neutral | None | None | None | None | N |
| T/R | 0.219 | likely_benign | 0.1916 | benign | -0.396 | Destabilizing | 0.986 | D | 0.549 | neutral | N | 0.470229922 | None | None | N |
| T/S | 0.1071 | likely_benign | 0.0884 | benign | -1.102 | Destabilizing | 0.891 | D | 0.489 | neutral | N | 0.452235167 | None | None | N |
| T/V | 0.1171 | likely_benign | 0.0923 | benign | -0.422 | Destabilizing | 0.067 | N | 0.218 | neutral | None | None | None | None | N |
| T/W | 0.6822 | likely_pathogenic | 0.5576 | ambiguous | -0.905 | Destabilizing | 0.998 | D | 0.615 | neutral | None | None | None | None | N |
| T/Y | 0.3279 | likely_benign | 0.248 | benign | -0.594 | Destabilizing | 0.974 | D | 0.595 | neutral | 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.