Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7327 | 22204;22205;22206 | chr2:178722920;178722919;178722918 | chr2:179587647;179587646;179587645 |
| N2AB | 7010 | 21253;21254;21255 | chr2:178722920;178722919;178722918 | chr2:179587647;179587646;179587645 |
| N2A | 6083 | 18472;18473;18474 | chr2:178722920;178722919;178722918 | chr2:179587647;179587646;179587645 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/M | rs727504975  |
0.097 | 0.328 | N | 0.34 | 0.266 | 0.414021929199 | gnomAD-2.1.1 | 1.55155E-04 | None | None | None | None | N | None | 0 | 5.89E-05 | None | 0 | 0 | None | 1.06823E-03 | None | 0 | 2.71E-05 | 1.69319E-04 |
| T/M | rs727504975 |
0.097 | 0.328 | N | 0.34 | 0.266 | 0.414021929199 | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 1.93274E-04 | None | 0 | 0 | 0 | 1.45108E-03 | 0 |
| T/M | rs727504975 |
0.097 | 0.328 | N | 0.34 | 0.266 | 0.414021929199 | gnomAD-4.0.0 | 8.75246E-05 | None | None | None | None | N | None | 2.67523E-05 | 3.3539E-05 | None | 0 | 2.23504E-05 | None | 0 | 0 | 1.61221E-05 | 1.24642E-03 | 6.42158E-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 | 0.0751 | likely_benign | 0.0807 | benign | -0.767 | Destabilizing | 0.201 | N | 0.314 | neutral | N | 0.480379852 | None | None | N |
| T/C | 0.4392 | ambiguous | 0.4613 | ambiguous | -0.517 | Destabilizing | 0.992 | D | 0.355 | neutral | None | None | None | None | N |
| T/D | 0.3216 | likely_benign | 0.3526 | ambiguous | -0.042 | Destabilizing | 0.85 | D | 0.34 | neutral | None | None | None | None | N |
| T/E | 0.1773 | likely_benign | 0.2017 | benign | -0.055 | Destabilizing | 0.617 | D | 0.324 | neutral | None | None | None | None | N |
| T/F | 0.231 | likely_benign | 0.2768 | benign | -0.852 | Destabilizing | 0.85 | D | 0.415 | neutral | None | None | None | None | N |
| T/G | 0.2431 | likely_benign | 0.2748 | benign | -1.006 | Destabilizing | 0.447 | N | 0.383 | neutral | None | None | None | None | N |
| T/H | 0.1764 | likely_benign | 0.1995 | benign | -1.207 | Destabilizing | 0.992 | D | 0.394 | neutral | None | None | None | None | N |
| T/I | 0.1722 | likely_benign | 0.2114 | benign | -0.227 | Destabilizing | 0.048 | N | 0.182 | neutral | None | None | None | None | N |
| T/K | 0.0863 | likely_benign | 0.1047 | benign | -0.704 | Destabilizing | 0.608 | D | 0.273 | neutral | N | 0.403553865 | None | None | N |
| T/L | 0.0955 | likely_benign | 0.1126 | benign | -0.227 | Destabilizing | 0.005 | N | 0.17 | neutral | None | None | None | None | N |
| T/M | 0.0802 | likely_benign | 0.0864 | benign | -0.02 | Destabilizing | 0.328 | N | 0.34 | neutral | N | 0.506547733 | None | None | N |
| T/N | 0.1194 | likely_benign | 0.1278 | benign | -0.605 | Destabilizing | 0.85 | D | 0.324 | neutral | None | None | None | None | N |
| T/P | 0.3438 | ambiguous | 0.4464 | ambiguous | -0.375 | Destabilizing | 0.896 | D | 0.365 | neutral | D | 0.524960136 | None | None | N |
| T/Q | 0.1311 | likely_benign | 0.1506 | benign | -0.782 | Destabilizing | 0.85 | D | 0.367 | neutral | None | None | None | None | N |
| T/R | 0.0716 | likely_benign | 0.0841 | benign | -0.422 | Destabilizing | 0.022 | N | 0.206 | neutral | N | 0.468007988 | None | None | N |
| T/S | 0.1073 | likely_benign | 0.1114 | benign | -0.904 | Destabilizing | 0.016 | N | 0.187 | neutral | N | 0.474453958 | None | None | N |
| T/V | 0.1364 | likely_benign | 0.1563 | benign | -0.375 | Destabilizing | 0.25 | N | 0.293 | neutral | None | None | None | None | N |
| T/W | 0.4445 | ambiguous | 0.5354 | ambiguous | -0.769 | Destabilizing | 0.992 | D | 0.456 | neutral | None | None | None | None | N |
| T/Y | 0.2467 | likely_benign | 0.2832 | benign | -0.549 | Destabilizing | 0.92 | D | 0.419 | 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.