Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 27475 | 82648;82649;82650 | chr2:178563709;178563708;178563707 | chr2:179428436;179428435;179428434 |
| N2AB | 25834 | 77725;77726;77727 | chr2:178563709;178563708;178563707 | chr2:179428436;179428435;179428434 |
| N2A | 24907 | 74944;74945;74946 | chr2:178563709;178563708;178563707 | chr2:179428436;179428435;179428434 |
| N2B | 18410 | 55453;55454;55455 | chr2:178563709;178563708;178563707 | chr2:179428436;179428435;179428434 |
| Novex-1 | 18535 | 55828;55829;55830 | chr2:178563709;178563708;178563707 | chr2:179428436;179428435;179428434 |
| Novex-2 | 18602 | 56029;56030;56031 | chr2:178563709;178563708;178563707 | chr2:179428436;179428435;179428434 |
| 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/I | None | None | 0.022 | N | 0.38 | 0.093 | 0.236278675362 | gnomAD-4.0.0 | 6.84201E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99473E-07 | 0 | 0 |
| T/K | rs377169807  |
-0.064 | None | N | 0.169 | 0.087 | None | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.55E-05 | 0 |
| T/K | rs377169807 |
-0.064 | None | N | 0.169 | 0.087 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 5.88E-05 | 0 | 0 |
| T/K | rs377169807 |
-0.064 | None | N | 0.169 | 0.087 | None | gnomAD-4.0.0 | 4.95767E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 6.44185E-05 | 0 | 6.4041E-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 | 0.0603 | likely_benign | 0.0598 | benign | -0.741 | Destabilizing | None | N | 0.123 | neutral | N | 0.410100543 | None | None | N |
| T/C | 0.2525 | likely_benign | 0.2522 | benign | -0.472 | Destabilizing | 0.824 | D | 0.383 | neutral | None | None | None | None | N |
| T/D | 0.2883 | likely_benign | 0.304 | benign | -0.707 | Destabilizing | 0.081 | N | 0.366 | neutral | None | None | None | None | N |
| T/E | 0.1959 | likely_benign | 0.2031 | benign | -0.756 | Destabilizing | 0.081 | N | 0.314 | neutral | None | None | None | None | N |
| T/F | 0.1428 | likely_benign | 0.1548 | benign | -1.08 | Destabilizing | 0.38 | N | 0.38 | neutral | None | None | None | None | N |
| T/G | 0.1924 | likely_benign | 0.1998 | benign | -0.927 | Destabilizing | 0.081 | N | 0.319 | neutral | None | None | None | None | N |
| T/H | 0.1771 | likely_benign | 0.1746 | benign | -1.307 | Destabilizing | 0.824 | D | 0.347 | neutral | None | None | None | None | N |
| T/I | 0.0662 | likely_benign | 0.0682 | benign | -0.347 | Destabilizing | 0.022 | N | 0.38 | neutral | N | 0.501029192 | None | None | N |
| T/K | 0.1167 | likely_benign | 0.1119 | benign | -0.771 | Destabilizing | None | N | 0.169 | neutral | N | 0.430379815 | None | None | N |
| T/L | 0.0561 | likely_benign | 0.0583 | benign | -0.347 | Destabilizing | 0.081 | N | 0.301 | neutral | None | None | None | None | N |
| T/M | 0.0665 | likely_benign | 0.0689 | benign | 0.143 | Stabilizing | 0.38 | N | 0.388 | neutral | None | None | None | None | N |
| T/N | 0.1022 | likely_benign | 0.1032 | benign | -0.66 | Destabilizing | 0.005 | N | 0.194 | neutral | None | None | None | None | N |
| T/P | 0.063 | likely_benign | 0.0632 | benign | -0.449 | Destabilizing | 0.001 | N | 0.174 | neutral | N | 0.465647181 | None | None | N |
| T/Q | 0.1401 | likely_benign | 0.1365 | benign | -0.996 | Destabilizing | 0.38 | N | 0.441 | neutral | None | None | None | None | N |
| T/R | 0.1068 | likely_benign | 0.1052 | benign | -0.39 | Destabilizing | 0.188 | N | 0.409 | neutral | N | 0.467647337 | None | None | N |
| T/S | 0.0956 | likely_benign | 0.0963 | benign | -0.835 | Destabilizing | 0.002 | N | 0.171 | neutral | N | 0.42893702 | None | None | N |
| T/V | 0.0607 | likely_benign | 0.0618 | benign | -0.449 | Destabilizing | 0.001 | N | 0.192 | neutral | None | None | None | None | N |
| T/W | 0.488 | ambiguous | 0.514 | ambiguous | -1.005 | Destabilizing | 0.935 | D | 0.508 | neutral | None | None | None | None | N |
| T/Y | 0.1922 | likely_benign | 0.1941 | benign | -0.761 | Destabilizing | 0.555 | D | 0.379 | 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.