Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 28853 | 86782;86783;86784 | chr2:178559575;178559574;178559573 | chr2:179424302;179424301;179424300 |
| N2AB | 27212 | 81859;81860;81861 | chr2:178559575;178559574;178559573 | chr2:179424302;179424301;179424300 |
| N2A | 26285 | 79078;79079;79080 | chr2:178559575;178559574;178559573 | chr2:179424302;179424301;179424300 |
| N2B | 19788 | 59587;59588;59589 | chr2:178559575;178559574;178559573 | chr2:179424302;179424301;179424300 |
| Novex-1 | 19913 | 59962;59963;59964 | chr2:178559575;178559574;178559573 | chr2:179424302;179424301;179424300 |
| Novex-2 | 19980 | 60163;60164;60165 | chr2:178559575;178559574;178559573 | chr2:179424302;179424301;179424300 |
| 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 | rs769730805  |
-0.097 | None | N | 0.211 | 0.095 | 0.104622674875 | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 5.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs769730805 |
-0.097 | None | N | 0.211 | 0.095 | 0.104622674875 | gnomAD-4.0.0 | 1.36844E-06 | None | None | None | None | N | None | 0 | 4.47227E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/S | None | None | None | N | 0.094 | 0.08 | 0.0551355673512 | gnomAD-4.0.0 | 6.8422E-07 | None | None | None | None | N | None | 2.98739E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0609 | likely_benign | 0.061 | benign | -0.738 | Destabilizing | None | N | 0.07 | neutral | N | 0.478771194 | None | None | N |
| T/C | 0.1597 | likely_benign | 0.1563 | benign | -0.477 | Destabilizing | 0.245 | N | 0.459 | neutral | None | None | None | None | N |
| T/D | 0.2103 | likely_benign | 0.2031 | benign | 0.108 | Stabilizing | 0.009 | N | 0.385 | neutral | None | None | None | None | N |
| T/E | 0.1751 | likely_benign | 0.1653 | benign | 0.092 | Stabilizing | None | N | 0.156 | neutral | None | None | None | None | N |
| T/F | 0.1132 | likely_benign | 0.1115 | benign | -0.938 | Destabilizing | 0.044 | N | 0.613 | neutral | None | None | None | None | N |
| T/G | 0.1355 | likely_benign | 0.1338 | benign | -0.967 | Destabilizing | 0.009 | N | 0.321 | neutral | None | None | None | None | N |
| T/H | 0.1147 | likely_benign | 0.1116 | benign | -1.25 | Destabilizing | 0.138 | N | 0.514 | neutral | None | None | None | None | N |
| T/I | 0.0652 | likely_benign | 0.0663 | benign | -0.233 | Destabilizing | None | N | 0.211 | neutral | N | 0.494106006 | None | None | N |
| T/K | 0.103 | likely_benign | 0.099 | benign | -0.597 | Destabilizing | None | N | 0.163 | neutral | None | None | None | None | N |
| T/L | 0.0634 | likely_benign | 0.0641 | benign | -0.233 | Destabilizing | 0.004 | N | 0.29 | neutral | None | None | None | None | N |
| T/M | 0.0707 | likely_benign | 0.0713 | benign | -0.017 | Destabilizing | 0.138 | N | 0.452 | neutral | None | None | None | None | N |
| T/N | 0.0808 | likely_benign | 0.084 | benign | -0.513 | Destabilizing | None | N | 0.153 | neutral | N | 0.502205414 | None | None | N |
| T/P | 0.3201 | likely_benign | 0.3341 | benign | -0.37 | Destabilizing | 0.033 | N | 0.467 | neutral | N | 0.47063845 | None | None | N |
| T/Q | 0.1287 | likely_benign | 0.1226 | benign | -0.666 | Destabilizing | 0.002 | N | 0.229 | neutral | None | None | None | None | N |
| T/R | 0.0939 | likely_benign | 0.0905 | benign | -0.387 | Destabilizing | None | N | 0.206 | neutral | None | None | None | None | N |
| T/S | 0.076 | likely_benign | 0.0752 | benign | -0.81 | Destabilizing | None | N | 0.094 | neutral | N | 0.464857748 | None | None | N |
| T/V | 0.0626 | likely_benign | 0.0639 | benign | -0.37 | Destabilizing | None | N | 0.067 | neutral | None | None | None | None | N |
| T/W | 0.331 | likely_benign | 0.3228 | benign | -0.875 | Destabilizing | 0.788 | D | 0.514 | neutral | None | None | None | None | N |
| T/Y | 0.1419 | likely_benign | 0.1396 | benign | -0.63 | Destabilizing | 0.085 | N | 0.612 | 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.