Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 34955 | 105088;105089;105090 | chr2:178531752;178531751;178531750 | chr2:179396479;179396478;179396477 |
| N2AB | 33314 | 100165;100166;100167 | chr2:178531752;178531751;178531750 | chr2:179396479;179396478;179396477 |
| N2A | 32387 | 97384;97385;97386 | chr2:178531752;178531751;178531750 | chr2:179396479;179396478;179396477 |
| N2B | 25890 | 77893;77894;77895 | chr2:178531752;178531751;178531750 | chr2:179396479;179396478;179396477 |
| Novex-1 | 26015 | 78268;78269;78270 | chr2:178531752;178531751;178531750 | chr2:179396479;179396478;179396477 |
| Novex-2 | 26082 | 78469;78470;78471 | chr2:178531752;178531751;178531750 | chr2:179396479;179396478;179396477 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/G | rs768740635  |
-2.169 | 0.007 | N | 0.369 | 0.117 | 0.178374595973 | gnomAD-2.1.1 | 1.2E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.85E-06 | 3.30469E-04 |
| C/G | rs768740635 |
-2.169 | 0.007 | N | 0.369 | 0.117 | 0.178374595973 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| C/G | rs768740635 |
-2.169 | 0.007 | N | 0.369 | 0.117 | 0.178374595973 | gnomAD-4.0.0 | 5.57664E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 3.28731E-04 | 5.08522E-06 | 0 | 1.60087E-05 |
| C/S | None | None | None | N | 0.137 | 0.073 | 0.0846915920261 | gnomAD-4.0.0 | 6.84141E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65634E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.146 | likely_benign | 0.1424 | benign | -1.426 | Destabilizing | 0.002 | N | 0.272 | neutral | None | None | None | None | N |
| C/D | 0.3657 | ambiguous | 0.3614 | ambiguous | -0.317 | Destabilizing | 0.022 | N | 0.466 | neutral | None | None | None | None | N |
| C/E | 0.3768 | ambiguous | 0.3893 | ambiguous | -0.299 | Destabilizing | 0.009 | N | 0.381 | neutral | None | None | None | None | N |
| C/F | 0.1237 | likely_benign | 0.1276 | benign | -1.072 | Destabilizing | 0.017 | N | 0.439 | neutral | N | 0.408299884 | None | None | N |
| C/G | 0.1165 | likely_benign | 0.1146 | benign | -1.653 | Destabilizing | 0.007 | N | 0.369 | neutral | N | 0.408473242 | None | None | N |
| C/H | 0.2127 | likely_benign | 0.2264 | benign | -1.631 | Destabilizing | 0.138 | N | 0.393 | neutral | None | None | None | None | N |
| C/I | 0.2237 | likely_benign | 0.2183 | benign | -0.879 | Destabilizing | None | N | 0.093 | neutral | None | None | None | None | N |
| C/K | 0.3329 | likely_benign | 0.3365 | benign | -0.762 | Destabilizing | 0.009 | N | 0.385 | neutral | None | None | None | None | N |
| C/L | 0.2287 | likely_benign | 0.2221 | benign | -0.879 | Destabilizing | None | N | 0.093 | neutral | None | None | None | None | N |
| C/M | 0.3502 | ambiguous | 0.3406 | ambiguous | -0.027 | Destabilizing | 0.002 | N | 0.251 | neutral | None | None | None | None | N |
| C/N | 0.2265 | likely_benign | 0.2064 | benign | -0.446 | Destabilizing | 0.022 | N | 0.506 | neutral | None | None | None | None | N |
| C/P | 0.3857 | ambiguous | 0.3692 | ambiguous | -1.037 | Destabilizing | 0.044 | N | 0.488 | neutral | None | None | None | None | N |
| C/Q | 0.2395 | likely_benign | 0.2504 | benign | -0.585 | Destabilizing | 0.002 | N | 0.235 | neutral | None | None | None | None | N |
| C/R | 0.1335 | likely_benign | 0.1443 | benign | -0.381 | Destabilizing | 0.033 | N | 0.491 | neutral | N | 0.364413034 | None | None | N |
| C/S | 0.1105 | likely_benign | 0.1022 | benign | -0.967 | Destabilizing | None | N | 0.137 | neutral | N | 0.370338928 | None | None | N |
| C/T | 0.1807 | likely_benign | 0.1478 | benign | -0.807 | Destabilizing | None | N | 0.123 | neutral | None | None | None | None | N |
| C/V | 0.1866 | likely_benign | 0.1818 | benign | -1.037 | Destabilizing | None | N | 0.103 | neutral | None | None | None | None | N |
| C/W | 0.2686 | likely_benign | 0.2881 | benign | -0.982 | Destabilizing | 0.196 | N | 0.35 | neutral | N | 0.427232361 | None | None | N |
| C/Y | 0.1327 | likely_benign | 0.1357 | benign | -0.966 | Destabilizing | None | N | 0.158 | neutral | N | 0.364933109 | 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.