Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 7744 | 23455;23456;23457 | chr2:178720532;178720531;178720530 | chr2:179585259;179585258;179585257 |
| N2AB | 7427 | 22504;22505;22506 | chr2:178720532;178720531;178720530 | chr2:179585259;179585258;179585257 |
| N2A | 6500 | 19723;19724;19725 | chr2:178720532;178720531;178720530 | chr2:179585259;179585258;179585257 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/K | rs72648972  |
0.331 | None | N | 0.161 | 0.136 | 0.225215365344 | gnomAD-2.1.1 | 3.74668E-03 | None | None | None | None | N | None | 8.2713E-04 | 1.1898E-03 | None | 9.96903E-03 | 7.70416E-04 | None | 1.89302E-02 | None | 1.60038E-04 | 2.00382E-03 | 4.08681E-03 |
| N/K | rs72648972 |
0.331 | None | N | 0.161 | 0.136 | 0.225215365344 | gnomAD-3.1.2 | 1.97847E-03 | None | None | None | None | N | None | 7.23764E-04 | 1.24508E-03 | 4.38597E-03 | 9.50461E-03 | 7.71903E-04 | None | 4.70633E-04 | 6.32911E-03 | 1.74964E-03 | 1.62027E-02 | 3.34288E-03 |
| N/K | rs72648972 |
0.331 | None | N | 0.161 | 0.136 | 0.225215365344 | 1000 genomes | 4.99201E-03 | None | None | None | None | N | None | 8E-04 | 4.3E-03 | None | None | 0 | 4E-03 | None | None | None | 1.74E-02 | None |
| N/K | rs72648972 |
0.331 | None | N | 0.161 | 0.136 | 0.225215365344 | gnomAD-4.0.0 | 2.52118E-03 | None | None | None | None | N | None | 7.06497E-04 | 1.26713E-03 | None | 9.93512E-03 | 6.46657E-04 | None | 2.50008E-04 | 1.42055E-02 | 1.39198E-03 | 1.82317E-02 | 3.32981E-03 |
| N/S | rs757107171 |
-0.043 | None | N | 0.108 | 0.181 | 0.149567049428 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.9E-06 | 0 |
| N/S | rs757107171 |
-0.043 | None | N | 0.108 | 0.181 | 0.149567049428 | gnomAD-4.0.0 | 1.59181E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85935E-06 | 0 | 0 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| N/A | 0.1629 | likely_benign | 0.1469 | benign | -0.255 | Destabilizing | None | N | 0.151 | neutral | None | None | None | None | N |
| N/C | 0.2903 | likely_benign | 0.2433 | benign | 0.251 | Stabilizing | 0.018 | N | 0.467 | neutral | None | None | None | None | N |
| N/D | 0.2625 | likely_benign | 0.239 | benign | 0.382 | Stabilizing | None | N | 0.164 | neutral | N | 0.455809482 | None | None | N |
| N/E | 0.5904 | likely_pathogenic | 0.5631 | ambiguous | 0.355 | Stabilizing | None | N | 0.165 | neutral | None | None | None | None | N |
| N/F | 0.5035 | ambiguous | 0.4904 | ambiguous | -0.673 | Destabilizing | 0.008 | N | 0.358 | neutral | None | None | None | None | N |
| N/G | 0.1638 | likely_benign | 0.156 | benign | -0.42 | Destabilizing | None | N | 0.121 | neutral | None | None | None | None | N |
| N/H | 0.1857 | likely_benign | 0.1645 | benign | -0.4 | Destabilizing | 0.013 | N | 0.255 | neutral | N | 0.518090092 | None | None | N |
| N/I | 0.2034 | likely_benign | 0.1931 | benign | 0.086 | Stabilizing | 0.001 | N | 0.329 | neutral | N | 0.505256867 | None | None | N |
| N/K | 0.5412 | ambiguous | 0.4391 | ambiguous | 0.22 | Stabilizing | None | N | 0.161 | neutral | N | 0.493903723 | None | None | N |
| N/L | 0.1906 | likely_benign | 0.1889 | benign | 0.086 | Stabilizing | None | N | 0.215 | neutral | None | None | None | None | N |
| N/M | 0.299 | likely_benign | 0.2909 | benign | 0.252 | Stabilizing | 0.051 | N | 0.331 | neutral | None | None | None | None | N |
| N/P | 0.2333 | likely_benign | 0.2297 | benign | -0.001 | Destabilizing | None | N | 0.142 | neutral | None | None | None | None | N |
| N/Q | 0.4371 | ambiguous | 0.407 | ambiguous | -0.268 | Destabilizing | 0.001 | N | 0.171 | neutral | None | None | None | None | N |
| N/R | 0.5696 | likely_pathogenic | 0.5691 | pathogenic | 0.226 | Stabilizing | 0.001 | N | 0.174 | neutral | None | None | None | None | N |
| N/S | 0.0594 | likely_benign | 0.0526 | benign | -0.113 | Destabilizing | None | N | 0.108 | neutral | N | 0.386426755 | None | None | N |
| N/T | 0.0994 | likely_benign | 0.0909 | benign | 0.013 | Stabilizing | None | N | 0.123 | neutral | N | 0.456540201 | None | None | N |
| N/V | 0.2308 | likely_benign | 0.2042 | benign | -0.001 | Destabilizing | 0.001 | N | 0.224 | neutral | None | None | None | None | N |
| N/W | 0.7681 | likely_pathogenic | 0.7631 | pathogenic | -0.685 | Destabilizing | 0.316 | N | 0.483 | neutral | None | None | None | None | N |
| N/Y | 0.1857 | likely_benign | 0.1775 | benign | -0.387 | Destabilizing | 0.006 | N | 0.332 | neutral | N | 0.486884552 | 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.