Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 25589 | 76990;76991;76992 | chr2:178569367;178569366;178569365 | chr2:179434094;179434093;179434092 |
| N2AB | 23948 | 72067;72068;72069 | chr2:178569367;178569366;178569365 | chr2:179434094;179434093;179434092 |
| N2A | 23021 | 69286;69287;69288 | chr2:178569367;178569366;178569365 | chr2:179434094;179434093;179434092 |
| N2B | 16524 | 49795;49796;49797 | chr2:178569367;178569366;178569365 | chr2:179434094;179434093;179434092 |
| Novex-1 | 16649 | 50170;50171;50172 | chr2:178569367;178569366;178569365 | chr2:179434094;179434093;179434092 |
| Novex-2 | 16716 | 50371;50372;50373 | chr2:178569367;178569366;178569365 | chr2:179434094;179434093;179434092 |
| 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 | rs794729499  |
-0.316 | 0.09 | N | 0.335 | 0.083 | 0.154104182512 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 6.46E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs794729499 |
-0.316 | 0.09 | N | 0.335 | 0.083 | 0.154104182512 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/A | rs794729499 |
-0.316 | 0.09 | N | 0.335 | 0.083 | 0.154104182512 | gnomAD-4.0.0 | 3.71902E-06 | None | None | None | None | N | None | 5.34174E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47771E-07 | 0 | 1.60154E-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 | 0.0724 | likely_benign | 0.0739 | benign | -0.341 | Destabilizing | 0.09 | N | 0.335 | neutral | N | 0.494962516 | None | None | N |
| T/C | 0.2625 | likely_benign | 0.2835 | benign | -0.188 | Destabilizing | 0.981 | D | 0.452 | neutral | None | None | None | None | N |
| T/D | 0.3875 | ambiguous | 0.3812 | ambiguous | 0.095 | Stabilizing | 0.388 | N | 0.427 | neutral | None | None | None | None | N |
| T/E | 0.2221 | likely_benign | 0.2154 | benign | 0.002 | Stabilizing | 0.241 | N | 0.393 | neutral | None | None | None | None | N |
| T/F | 0.1831 | likely_benign | 0.1901 | benign | -0.933 | Destabilizing | 0.818 | D | 0.534 | neutral | None | None | None | None | N |
| T/G | 0.2029 | likely_benign | 0.2096 | benign | -0.436 | Destabilizing | 0.241 | N | 0.503 | neutral | None | None | None | None | N |
| T/H | 0.2014 | likely_benign | 0.2027 | benign | -0.802 | Destabilizing | 0.893 | D | 0.52 | neutral | None | None | None | None | N |
| T/I | 0.1151 | likely_benign | 0.1092 | benign | -0.213 | Destabilizing | 0.193 | N | 0.405 | neutral | D | 0.524362703 | None | None | N |
| T/K | 0.1196 | likely_benign | 0.1206 | benign | -0.296 | Destabilizing | 0.193 | N | 0.403 | neutral | N | 0.459153644 | None | None | N |
| T/L | 0.0841 | likely_benign | 0.0873 | benign | -0.213 | Destabilizing | 0.241 | N | 0.376 | neutral | None | None | None | None | N |
| T/M | 0.0771 | likely_benign | 0.0774 | benign | 0.047 | Stabilizing | 0.818 | D | 0.423 | neutral | None | None | None | None | N |
| T/N | 0.1033 | likely_benign | 0.1008 | benign | -0.034 | Destabilizing | 0.241 | N | 0.357 | neutral | None | None | None | None | N |
| T/P | 0.2743 | likely_benign | 0.2647 | benign | -0.229 | Destabilizing | 0.003 | N | 0.312 | neutral | N | 0.498405442 | None | None | N |
| T/Q | 0.1434 | likely_benign | 0.1408 | benign | -0.305 | Destabilizing | 0.019 | N | 0.385 | neutral | None | None | None | None | N |
| T/R | 0.1156 | likely_benign | 0.1186 | benign | -0.038 | Destabilizing | 0.457 | N | 0.419 | neutral | N | 0.489652697 | None | None | N |
| T/S | 0.084 | likely_benign | 0.0842 | benign | -0.223 | Destabilizing | 0.006 | N | 0.213 | neutral | N | 0.422811629 | None | None | N |
| T/V | 0.0965 | likely_benign | 0.0975 | benign | -0.229 | Destabilizing | 0.008 | N | 0.235 | neutral | None | None | None | None | N |
| T/W | 0.5447 | ambiguous | 0.5651 | pathogenic | -0.945 | Destabilizing | 0.981 | D | 0.593 | neutral | None | None | None | None | N |
| T/Y | 0.2394 | likely_benign | 0.248 | benign | -0.652 | Destabilizing | 0.818 | D | 0.534 | 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.