Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 23610 | 71053;71054;71055 | chr2:178575304;178575303;178575302 | chr2:179440031;179440030;179440029 |
| N2AB | 21969 | 66130;66131;66132 | chr2:178575304;178575303;178575302 | chr2:179440031;179440030;179440029 |
| N2A | 21042 | 63349;63350;63351 | chr2:178575304;178575303;178575302 | chr2:179440031;179440030;179440029 |
| N2B | 14545 | 43858;43859;43860 | chr2:178575304;178575303;178575302 | chr2:179440031;179440030;179440029 |
| Novex-1 | 14670 | 44233;44234;44235 | chr2:178575304;178575303;178575302 | chr2:179440031;179440030;179440029 |
| Novex-2 | 14737 | 44434;44435;44436 | chr2:178575304;178575303;178575302 | chr2:179440031;179440030;179440029 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/R | rs12464787  |
0.156 | 0.988 | N | 0.423 | 0.266 | 0.221734844693 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 1.12549E-04 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs12464787 |
0.156 | 0.988 | N | 0.423 | 0.266 | 0.221734844693 | gnomAD-4.0.0 | 2.05324E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 2.5296E-05 | None | 0 | 0 | 8.99635E-07 | 0 | 1.65717E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.0622 | likely_benign | 0.064 | benign | -0.262 | Destabilizing | 0.033 | N | 0.146 | neutral | None | None | None | None | I |
| S/C | 0.1318 | likely_benign | 0.1328 | benign | -0.256 | Destabilizing | 0.997 | D | 0.429 | neutral | N | 0.468432723 | None | None | I |
| S/D | 0.3125 | likely_benign | 0.3216 | benign | 0.004 | Stabilizing | 0.978 | D | 0.303 | neutral | None | None | None | None | I |
| S/E | 0.367 | ambiguous | 0.3644 | ambiguous | -0.112 | Destabilizing | 0.926 | D | 0.323 | neutral | None | None | None | None | I |
| S/F | 0.1931 | likely_benign | 0.2012 | benign | -1.022 | Destabilizing | 0.956 | D | 0.575 | neutral | None | None | None | None | I |
| S/G | 0.0837 | likely_benign | 0.0752 | benign | -0.293 | Destabilizing | 0.822 | D | 0.356 | neutral | N | 0.483862009 | None | None | I |
| S/H | 0.2907 | likely_benign | 0.2843 | benign | -0.721 | Destabilizing | 0.998 | D | 0.441 | neutral | None | None | None | None | I |
| S/I | 0.1234 | likely_benign | 0.1209 | benign | -0.308 | Destabilizing | 0.032 | N | 0.41 | neutral | N | 0.487427963 | None | None | I |
| S/K | 0.556 | ambiguous | 0.5545 | ambiguous | -0.295 | Destabilizing | 0.926 | D | 0.324 | neutral | None | None | None | None | I |
| S/L | 0.0815 | likely_benign | 0.085 | benign | -0.308 | Destabilizing | 0.514 | D | 0.51 | neutral | None | None | None | None | I |
| S/M | 0.1469 | likely_benign | 0.1486 | benign | -0.063 | Destabilizing | 0.956 | D | 0.419 | neutral | None | None | None | None | I |
| S/N | 0.1093 | likely_benign | 0.0971 | benign | -0.045 | Destabilizing | 0.99 | D | 0.317 | neutral | N | 0.509648675 | None | None | I |
| S/P | 0.2482 | likely_benign | 0.2526 | benign | -0.27 | Destabilizing | 0.978 | D | 0.425 | neutral | None | None | None | None | I |
| S/Q | 0.3831 | ambiguous | 0.3786 | ambiguous | -0.324 | Destabilizing | 0.993 | D | 0.292 | neutral | None | None | None | None | I |
| S/R | 0.5221 | ambiguous | 0.5187 | ambiguous | -0.069 | Destabilizing | 0.988 | D | 0.423 | neutral | N | 0.497431526 | None | None | I |
| S/T | 0.0712 | likely_benign | 0.0689 | benign | -0.172 | Destabilizing | 0.822 | D | 0.371 | neutral | N | 0.5091286 | None | None | I |
| S/V | 0.1265 | likely_benign | 0.129 | benign | -0.27 | Destabilizing | 0.514 | D | 0.505 | neutral | None | None | None | None | I |
| S/W | 0.3833 | ambiguous | 0.3906 | ambiguous | -1.065 | Destabilizing | 0.998 | D | 0.683 | prob.neutral | None | None | None | None | I |
| S/Y | 0.2012 | likely_benign | 0.2003 | benign | -0.763 | Destabilizing | 0.978 | D | 0.577 | neutral | None | None | None | None | I |
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.