Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 5250 | 15973;15974;15975 | chr2:178733641;178733640;178733639 | chr2:179598368;179598367;179598366 |
| N2AB | 4933 | 15022;15023;15024 | chr2:178733641;178733640;178733639 | chr2:179598368;179598367;179598366 |
| N2A | 4006 | 12241;12242;12243 | chr2:178733641;178733640;178733639 | chr2:179598368;179598367;179598366 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs759384825  |
-0.123 | 0.966 | N | 0.572 | 0.385 | 0.528260413467 | gnomAD-2.1.1 | 4.43E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 3.34448E-04 | None | 1.63698E-04 | None | 0 | 0 | 0 |
| T/I | rs759384825 |
-0.123 | 0.966 | N | 0.572 | 0.385 | 0.528260413467 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 2.06954E-04 | 0 |
| T/I | rs759384825 |
-0.123 | 0.966 | N | 0.572 | 0.385 | 0.528260413467 | gnomAD-4.0.0 | 1.30232E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.56159E-04 | None | 0 | 0 | 0 | 1.42829E-04 | 1.60215E-05 |
| T/P | None | None | 0.966 | D | 0.565 | 0.432 | 0.540925512045 | gnomAD-4.0.0 | 1.59445E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86653E-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 | 0.08 | likely_benign | 0.0808 | benign | -0.636 | Destabilizing | 0.454 | N | 0.473 | neutral | N | 0.518112957 | None | None | N |
| T/C | 0.4024 | ambiguous | 0.4207 | ambiguous | -0.339 | Destabilizing | 0.998 | D | 0.54 | neutral | None | None | None | None | N |
| T/D | 0.3935 | ambiguous | 0.4238 | ambiguous | 0.565 | Stabilizing | 0.728 | D | 0.496 | neutral | None | None | None | None | N |
| T/E | 0.2429 | likely_benign | 0.2596 | benign | 0.539 | Stabilizing | 0.842 | D | 0.506 | neutral | None | None | None | None | N |
| T/F | 0.1856 | likely_benign | 0.1913 | benign | -0.894 | Destabilizing | 0.991 | D | 0.603 | neutral | None | None | None | None | N |
| T/G | 0.2633 | likely_benign | 0.2671 | benign | -0.837 | Destabilizing | 0.525 | D | 0.525 | neutral | None | None | None | None | N |
| T/H | 0.1967 | likely_benign | 0.2084 | benign | -1.011 | Destabilizing | 0.974 | D | 0.587 | neutral | None | None | None | None | N |
| T/I | 0.1315 | likely_benign | 0.1425 | benign | -0.208 | Destabilizing | 0.966 | D | 0.572 | neutral | N | 0.515988041 | None | None | N |
| T/K | 0.1349 | likely_benign | 0.143 | benign | -0.311 | Destabilizing | 0.022 | N | 0.316 | neutral | N | 0.468595537 | None | None | N |
| T/L | 0.0882 | likely_benign | 0.088 | benign | -0.208 | Destabilizing | 0.842 | D | 0.503 | neutral | None | None | None | None | N |
| T/M | 0.0772 | likely_benign | 0.0779 | benign | -0.088 | Destabilizing | 0.991 | D | 0.553 | neutral | None | None | None | None | N |
| T/N | 0.1029 | likely_benign | 0.1079 | benign | -0.163 | Destabilizing | 0.016 | N | 0.247 | neutral | None | None | None | None | N |
| T/P | 0.1437 | likely_benign | 0.1646 | benign | -0.32 | Destabilizing | 0.966 | D | 0.565 | neutral | D | 0.545572946 | None | None | N |
| T/Q | 0.1692 | likely_benign | 0.175 | benign | -0.309 | Destabilizing | 0.949 | D | 0.564 | neutral | None | None | None | None | N |
| T/R | 0.1263 | likely_benign | 0.1248 | benign | -0.111 | Destabilizing | 0.669 | D | 0.498 | neutral | N | 0.482312973 | None | None | N |
| T/S | 0.0998 | likely_benign | 0.1035 | benign | -0.517 | Destabilizing | 0.051 | N | 0.216 | neutral | N | 0.445633024 | None | None | N |
| T/V | 0.1142 | likely_benign | 0.1169 | benign | -0.32 | Destabilizing | 0.842 | D | 0.459 | neutral | None | None | None | None | N |
| T/W | 0.5008 | ambiguous | 0.5078 | ambiguous | -0.831 | Destabilizing | 0.998 | D | 0.644 | neutral | None | None | None | None | N |
| T/Y | 0.1934 | likely_benign | 0.1895 | benign | -0.57 | Destabilizing | 0.991 | D | 0.603 | 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.