Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28613 | 86062;86063;86064 | chr2:178560295;178560294;178560293 | chr2:179425022;179425021;179425020 |
| N2AB | 26972 | 81139;81140;81141 | chr2:178560295;178560294;178560293 | chr2:179425022;179425021;179425020 |
| N2A | 26045 | 78358;78359;78360 | chr2:178560295;178560294;178560293 | chr2:179425022;179425021;179425020 |
| N2B | 19548 | 58867;58868;58869 | chr2:178560295;178560294;178560293 | chr2:179425022;179425021;179425020 |
| Novex-1 | 19673 | 59242;59243;59244 | chr2:178560295;178560294;178560293 | chr2:179425022;179425021;179425020 |
| Novex-2 | 19740 | 59443;59444;59445 | chr2:178560295;178560294;178560293 | chr2:179425022;179425021;179425020 |
| 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 | rs1341127613  |
-0.519 | 0.005 | N | 0.229 | 0.118 | 0.139678290688 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 1.65673E-04 |
| T/A | rs1341127613 |
-0.519 | 0.005 | N | 0.229 | 0.118 | 0.139678290688 | gnomAD-4.0.0 | 3.42098E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69838E-06 | 0 | 3.31312E-05 |
| T/I | rs368615862 |
-0.173 | None | N | 0.233 | 0.22 | None | gnomAD-2.1.1 | 3.57E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 7.8E-05 | 0 |
| T/I | rs368615862 |
-0.173 | None | N | 0.233 | 0.22 | None | gnomAD-3.1.2 | 3.95E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 8.82E-05 | 0 | 0 |
| T/I | rs368615862 |
-0.173 | None | N | 0.233 | 0.22 | None | gnomAD-4.0.0 | 5.89333E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.10077E-04 | 0 | 0 |
| T/S | rs1341127613 |
-0.246 | None | N | 0.163 | 0.087 | 0.115124310173 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.87E-06 | 0 |
| T/S | rs1341127613 |
-0.246 | None | N | 0.163 | 0.087 | 0.115124310173 | gnomAD-4.0.0 | 1.36839E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99459E-07 | 0 | 1.65656E-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 | 0.0664 | likely_benign | 0.0638 | benign | -0.457 | Destabilizing | 0.005 | N | 0.229 | neutral | N | 0.516905508 | None | None | N |
| T/C | 0.2917 | likely_benign | 0.2933 | benign | -0.276 | Destabilizing | 0.628 | D | 0.543 | neutral | None | None | None | None | N |
| T/D | 0.4343 | ambiguous | 0.4033 | ambiguous | 0.293 | Stabilizing | 0.072 | N | 0.447 | neutral | None | None | None | None | N |
| T/E | 0.3773 | ambiguous | 0.3333 | benign | 0.208 | Stabilizing | 0.072 | N | 0.449 | neutral | None | None | None | None | N |
| T/F | 0.199 | likely_benign | 0.1787 | benign | -0.98 | Destabilizing | 0.214 | N | 0.576 | neutral | None | None | None | None | N |
| T/G | 0.1407 | likely_benign | 0.142 | benign | -0.564 | Destabilizing | 0.016 | N | 0.383 | neutral | None | None | None | None | N |
| T/H | 0.2387 | likely_benign | 0.223 | benign | -0.844 | Destabilizing | 0.356 | N | 0.55 | neutral | None | None | None | None | N |
| T/I | 0.1351 | likely_benign | 0.1143 | benign | -0.293 | Destabilizing | None | N | 0.233 | neutral | N | 0.483337882 | None | None | N |
| T/K | 0.258 | likely_benign | 0.217 | benign | -0.303 | Destabilizing | 0.029 | N | 0.449 | neutral | N | 0.49889575 | None | None | N |
| T/L | 0.0856 | likely_benign | 0.0724 | benign | -0.293 | Destabilizing | 0.006 | N | 0.345 | neutral | None | None | None | None | N |
| T/M | 0.09 | likely_benign | 0.0813 | benign | -0.047 | Destabilizing | 0.214 | N | 0.552 | neutral | None | None | None | None | N |
| T/N | 0.1146 | likely_benign | 0.1131 | benign | -0.058 | Destabilizing | 0.038 | N | 0.387 | neutral | None | None | None | None | N |
| T/P | 0.0814 | likely_benign | 0.0865 | benign | -0.32 | Destabilizing | 0.106 | N | 0.527 | neutral | N | 0.47498009 | None | None | N |
| T/Q | 0.2222 | likely_benign | 0.2034 | benign | -0.322 | Destabilizing | 0.214 | N | 0.573 | neutral | None | None | None | None | N |
| T/R | 0.2341 | likely_benign | 0.195 | benign | -0.026 | Destabilizing | 0.171 | N | 0.557 | neutral | N | 0.520252457 | None | None | N |
| T/S | 0.0812 | likely_benign | 0.0828 | benign | -0.314 | Destabilizing | None | N | 0.163 | neutral | N | 0.441732959 | None | None | N |
| T/V | 0.1013 | likely_benign | 0.0898 | benign | -0.32 | Destabilizing | 0.006 | N | 0.377 | neutral | None | None | None | None | N |
| T/W | 0.4929 | ambiguous | 0.4466 | ambiguous | -0.947 | Destabilizing | 0.864 | D | 0.565 | neutral | None | None | None | None | N |
| T/Y | 0.2497 | likely_benign | 0.233 | benign | -0.674 | Destabilizing | 0.356 | N | 0.565 | 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.