Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 2498 | 7717;7718;7719 | chr2:178773564;178773563;178773562 | chr2:179638291;179638290;179638289 |
| N2AB | 2498 | 7717;7718;7719 | chr2:178773564;178773563;178773562 | chr2:179638291;179638290;179638289 |
| N2A | 2498 | 7717;7718;7719 | chr2:178773564;178773563;178773562 | chr2:179638291;179638290;179638289 |
| N2B | 2452 | 7579;7580;7581 | chr2:178773564;178773563;178773562 | chr2:179638291;179638290;179638289 |
| Novex-1 | 2452 | 7579;7580;7581 | chr2:178773564;178773563;178773562 | chr2:179638291;179638290;179638289 |
| Novex-2 | 2452 | 7579;7580;7581 | chr2:178773564;178773563;178773562 | chr2:179638291;179638290;179638289 |
| Novex-3 | 2498 | 7717;7718;7719 | chr2:178773564;178773563;178773562 | chr2:179638291;179638290;179638289 |
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/A | rs943280773  |
-1.129 | 0.002 | N | 0.163 | 0.199 | 0.16115917748 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 2.89E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| T/A | rs943280773 |
-1.129 | 0.002 | N | 0.163 | 0.199 | 0.16115917748 | gnomAD-4.0.0 | 4.77205E-06 | None | None | None | None | N | None | 5.65355E-05 | 2.28707E-05 | None | 0 | 0 | None | 0 | 0 | 2.85672E-06 | 0 | 0 |
| T/I | rs1160698032 |
-0.143 | 0.934 | D | 0.467 | 0.461 | 0.600369781234 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.45E-05 | None | 0 | None | 0 | 0 | 0 |
| T/I | rs1160698032 |
-0.143 | 0.934 | D | 0.467 | 0.461 | 0.600369781234 | gnomAD-4.0.0 | 6.84105E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52067E-05 | None | 0 | 0 | 0 | 0 | 0 |
| T/P | None | None | 0.966 | D | 0.469 | 0.438 | 0.519133540473 | gnomAD-4.0.0 | 3.18137E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.71344E-06 | 0 | 0 |
| T/S | None | None | 0.136 | N | 0.192 | 0.168 | 0.227934060464 | gnomAD-4.0.0 | 1.36821E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79864E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.0992 | likely_benign | 0.1022 | benign | -0.916 | Destabilizing | 0.002 | N | 0.163 | neutral | N | 0.475309629 | None | None | N |
| T/C | 0.4722 | ambiguous | 0.4728 | ambiguous | -0.73 | Destabilizing | 0.993 | D | 0.478 | neutral | None | None | None | None | N |
| T/D | 0.4507 | ambiguous | 0.5097 | ambiguous | -0.535 | Destabilizing | 0.842 | D | 0.449 | neutral | None | None | None | None | N |
| T/E | 0.4184 | ambiguous | 0.4773 | ambiguous | -0.512 | Destabilizing | 0.842 | D | 0.427 | neutral | None | None | None | None | N |
| T/F | 0.3829 | ambiguous | 0.4004 | ambiguous | -0.858 | Destabilizing | 0.974 | D | 0.593 | neutral | None | None | None | None | N |
| T/G | 0.2586 | likely_benign | 0.2442 | benign | -1.195 | Destabilizing | 0.525 | D | 0.515 | neutral | None | None | None | None | N |
| T/H | 0.3375 | likely_benign | 0.3523 | ambiguous | -1.406 | Destabilizing | 0.998 | D | 0.563 | neutral | None | None | None | None | N |
| T/I | 0.3083 | likely_benign | 0.3424 | ambiguous | -0.256 | Destabilizing | 0.934 | D | 0.467 | neutral | D | 0.553517752 | None | None | N |
| T/K | 0.2474 | likely_benign | 0.2913 | benign | -0.897 | Destabilizing | 0.842 | D | 0.449 | neutral | None | None | None | None | N |
| T/L | 0.133 | likely_benign | 0.1351 | benign | -0.256 | Destabilizing | 0.842 | D | 0.429 | neutral | None | None | None | None | N |
| T/M | 0.1099 | likely_benign | 0.1019 | benign | -0.013 | Destabilizing | 0.991 | D | 0.479 | neutral | None | None | None | None | N |
| T/N | 0.1009 | likely_benign | 0.0987 | benign | -0.927 | Destabilizing | 0.801 | D | 0.463 | neutral | N | 0.503124574 | None | None | N |
| T/P | 0.1627 | likely_benign | 0.1639 | benign | -0.444 | Destabilizing | 0.966 | D | 0.469 | neutral | D | 0.619025798 | None | None | N |
| T/Q | 0.2521 | likely_benign | 0.258 | benign | -1.089 | Destabilizing | 0.974 | D | 0.51 | neutral | None | None | None | None | N |
| T/R | 0.2177 | likely_benign | 0.2589 | benign | -0.646 | Destabilizing | 0.974 | D | 0.481 | neutral | None | None | None | None | N |
| T/S | 0.1084 | likely_benign | 0.1045 | benign | -1.209 | Destabilizing | 0.136 | N | 0.192 | neutral | N | 0.492162138 | None | None | N |
| T/V | 0.2117 | likely_benign | 0.2256 | benign | -0.444 | Destabilizing | 0.728 | D | 0.405 | neutral | None | None | None | None | N |
| T/W | 0.7329 | likely_pathogenic | 0.7387 | pathogenic | -0.775 | Destabilizing | 0.998 | D | 0.619 | neutral | None | None | None | None | N |
| T/Y | 0.3753 | ambiguous | 0.3981 | ambiguous | -0.551 | Destabilizing | 0.991 | D | 0.587 | 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.