Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7053 | 21382;21383;21384 | chr2:178724102;178724101;178724100 | chr2:179588829;179588828;179588827 |
| N2AB | 6736 | 20431;20432;20433 | chr2:178724102;178724101;178724100 | chr2:179588829;179588828;179588827 |
| N2A | 5809 | 17650;17651;17652 | chr2:178724102;178724101;178724100 | chr2:179588829;179588828;179588827 |
| 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/P | rs727504741  |
-0.361 | 0.859 | N | 0.539 | 0.405 | 0.478222008075 | gnomAD-2.1.1 | 7.19E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.88651E-04 | 1.02891E-04 | None | 3.93211E-04 | None | 0 | 0 | 2.82725E-04 |
| T/P | rs727504741 |
-0.361 | 0.859 | N | 0.539 | 0.405 | 0.478222008075 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.07039E-04 | 4.78011E-04 |
| T/P | rs727504741 |
-0.361 | 0.859 | N | 0.539 | 0.405 | 0.478222008075 | gnomAD-4.0.0 | 4.03024E-05 | None | None | None | None | N | None | 0 | 0 | None | 3.71848E-04 | 2.90062E-04 | None | 0 | 0 | 4.24005E-06 | 3.62534E-04 | 4.80769E-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 | 0.079 | likely_benign | 0.0719 | benign | -0.613 | Destabilizing | 0.22 | N | 0.488 | neutral | D | 0.528747016 | None | None | N |
| T/C | 0.3764 | ambiguous | 0.3408 | ambiguous | -0.314 | Destabilizing | 0.968 | D | 0.541 | neutral | None | None | None | None | N |
| T/D | 0.3321 | likely_benign | 0.3034 | benign | -0.006 | Destabilizing | 0.726 | D | 0.497 | neutral | None | None | None | None | N |
| T/E | 0.2561 | likely_benign | 0.2283 | benign | -0.048 | Destabilizing | 0.567 | D | 0.483 | neutral | None | None | None | None | N |
| T/F | 0.1833 | likely_benign | 0.1677 | benign | -0.925 | Destabilizing | 0.567 | D | 0.592 | neutral | None | None | None | None | N |
| T/G | 0.2445 | likely_benign | 0.2144 | benign | -0.812 | Destabilizing | 0.726 | D | 0.539 | neutral | None | None | None | None | N |
| T/H | 0.2278 | likely_benign | 0.2018 | benign | -1.186 | Destabilizing | 0.006 | N | 0.465 | neutral | None | None | None | None | N |
| T/I | 0.1136 | likely_benign | 0.0998 | benign | -0.193 | Destabilizing | 0.001 | N | 0.296 | neutral | N | 0.503811286 | None | None | N |
| T/K | 0.1727 | likely_benign | 0.1661 | benign | -0.564 | Destabilizing | 0.726 | D | 0.501 | neutral | None | None | None | None | N |
| T/L | 0.1017 | likely_benign | 0.0899 | benign | -0.193 | Destabilizing | 0.026 | N | 0.549 | neutral | None | None | None | None | N |
| T/M | 0.0928 | likely_benign | 0.0812 | benign | 0.113 | Stabilizing | 0.567 | D | 0.544 | neutral | None | None | None | None | N |
| T/N | 0.1305 | likely_benign | 0.1257 | benign | -0.387 | Destabilizing | 0.497 | N | 0.439 | neutral | D | 0.526789592 | None | None | N |
| T/P | 0.2273 | likely_benign | 0.1997 | benign | -0.302 | Destabilizing | 0.859 | D | 0.539 | neutral | N | 0.520459716 | None | None | N |
| T/Q | 0.2099 | likely_benign | 0.19 | benign | -0.596 | Destabilizing | 0.726 | D | 0.535 | neutral | None | None | None | None | N |
| T/R | 0.1241 | likely_benign | 0.1145 | benign | -0.33 | Destabilizing | 0.726 | D | 0.529 | neutral | None | None | None | None | N |
| T/S | 0.1066 | likely_benign | 0.0999 | benign | -0.628 | Destabilizing | 0.364 | N | 0.475 | neutral | D | 0.532923471 | None | None | N |
| T/V | 0.1018 | likely_benign | 0.0912 | benign | -0.302 | Destabilizing | 0.026 | N | 0.503 | neutral | None | None | None | None | N |
| T/W | 0.4858 | ambiguous | 0.4191 | ambiguous | -0.884 | Destabilizing | 0.968 | D | 0.659 | neutral | None | None | None | None | N |
| T/Y | 0.2357 | likely_benign | 0.2095 | benign | -0.63 | Destabilizing | 0.567 | D | 0.593 | 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.