Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3829 | 11710;11711;11712 | chr2:178741748;178741747;178741746 | chr2:179606475;179606474;179606473 |
| N2AB | 3512 | 10759;10760;10761 | chr2:178741748;178741747;178741746 | chr2:179606475;179606474;179606473 |
| N2A | None | None | chr2:None | chr2:None |
| N2B | 3466 | 10621;10622;10623 | chr2:178741748;178741747;178741746 | chr2:179606475;179606474;179606473 |
| Novex-1 | 3591 | 10996;10997;10998 | chr2:178741748;178741747;178741746 | chr2:179606475;179606474;179606473 |
| Novex-2 | 3658 | 11197;11198;11199 | chr2:178741748;178741747;178741746 | chr2:179606475;179606474;179606473 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/G | rs778583163  |
-1.056 | 0.193 | N | 0.492 | 0.115 | None | gnomAD-2.1.1 | 8.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.11782E-04 | None | 0 | None | 0 | 0 | 0 |
| A/G | rs778583163 |
-1.056 | 0.193 | N | 0.492 | 0.115 | None | gnomAD-4.0.0 | 3.18325E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77701E-05 | None | 0 | 0 | 2.85866E-06 | 0 | 0 |
| A/S | rs745332301 |
-1.08 | 0.003 | N | 0.165 | 0.087 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| A/S | rs745332301 |
-1.08 | 0.003 | N | 0.165 | 0.087 | None | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77716E-05 | None | 0 | 0 | 0 | 0 | 0 |
| A/V | rs778583163 |
-0.089 | 0.001 | N | 0.169 | 0.071 | None | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 5.59E-05 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs778583163 |
-0.089 | 0.001 | N | 0.169 | 0.071 | None | gnomAD-4.0.0 | 1.59163E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.77701E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.408 | ambiguous | 0.4187 | ambiguous | -0.904 | Destabilizing | 0.944 | D | 0.49 | neutral | None | None | None | None | N |
| A/D | 0.2625 | likely_benign | 0.2543 | benign | -0.831 | Destabilizing | 0.627 | D | 0.508 | neutral | D | 0.541566096 | None | None | N |
| A/E | 0.2199 | likely_benign | 0.2228 | benign | -0.907 | Destabilizing | 0.388 | N | 0.486 | neutral | None | None | None | None | N |
| A/F | 0.2961 | likely_benign | 0.2676 | benign | -0.905 | Destabilizing | 0.69 | D | 0.537 | neutral | None | None | None | None | N |
| A/G | 0.1759 | likely_benign | 0.1726 | benign | -0.861 | Destabilizing | 0.193 | N | 0.492 | neutral | N | 0.512225935 | None | None | N |
| A/H | 0.4426 | ambiguous | 0.4262 | ambiguous | -0.967 | Destabilizing | 0.944 | D | 0.495 | neutral | None | None | None | None | N |
| A/I | 0.2037 | likely_benign | 0.1628 | benign | -0.311 | Destabilizing | 0.098 | N | 0.471 | neutral | None | None | None | None | N |
| A/K | 0.3268 | likely_benign | 0.3122 | benign | -1.117 | Destabilizing | 0.241 | N | 0.485 | neutral | None | None | None | None | N |
| A/L | 0.1925 | likely_benign | 0.164 | benign | -0.311 | Destabilizing | 0.116 | N | 0.489 | neutral | None | None | None | None | N |
| A/M | 0.1933 | likely_benign | 0.1687 | benign | -0.329 | Destabilizing | 0.69 | D | 0.508 | neutral | None | None | None | None | N |
| A/N | 0.277 | likely_benign | 0.2515 | benign | -0.811 | Destabilizing | 0.527 | D | 0.512 | neutral | None | None | None | None | N |
| A/P | 0.6247 | likely_pathogenic | 0.5721 | pathogenic | -0.388 | Destabilizing | 0.773 | D | 0.515 | neutral | N | 0.511337311 | None | None | N |
| A/Q | 0.3199 | likely_benign | 0.315 | benign | -1.0 | Destabilizing | 0.69 | D | 0.535 | neutral | None | None | None | None | N |
| A/R | 0.263 | likely_benign | 0.2628 | benign | -0.706 | Destabilizing | 0.69 | D | 0.52 | neutral | None | None | None | None | N |
| A/S | 0.1066 | likely_benign | 0.1037 | benign | -1.114 | Destabilizing | 0.003 | N | 0.165 | neutral | N | 0.499029604 | None | None | N |
| A/T | 0.0772 | likely_benign | 0.0715 | benign | -1.094 | Destabilizing | 0.001 | N | 0.383 | neutral | N | 0.474255577 | None | None | N |
| A/V | 0.1048 | likely_benign | 0.0877 | benign | -0.388 | Destabilizing | 0.001 | N | 0.169 | neutral | N | 0.387383474 | None | None | N |
| A/W | 0.6953 | likely_pathogenic | 0.6943 | pathogenic | -1.172 | Destabilizing | 0.981 | D | 0.618 | neutral | None | None | None | None | N |
| A/Y | 0.429 | ambiguous | 0.4072 | ambiguous | -0.793 | Destabilizing | 0.818 | D | 0.524 | 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.