Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 16801 | 50626;50627;50628 | chr2:178611908;178611907;178611906 | chr2:179476635;179476634;179476633 |
| N2AB | 15160 | 45703;45704;45705 | chr2:178611908;178611907;178611906 | chr2:179476635;179476634;179476633 |
| N2A | 14233 | 42922;42923;42924 | chr2:178611908;178611907;178611906 | chr2:179476635;179476634;179476633 |
| N2B | 7736 | 23431;23432;23433 | chr2:178611908;178611907;178611906 | chr2:179476635;179476634;179476633 |
| Novex-1 | 7861 | 23806;23807;23808 | chr2:178611908;178611907;178611906 | chr2:179476635;179476634;179476633 |
| Novex-2 | 7928 | 24007;24008;24009 | chr2:178611908;178611907;178611906 | chr2:179476635;179476634;179476633 |
| 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 | rs2056391754  |
None | 0.961 | N | 0.497 | 0.243 | 0.326881540566 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 0 | 6.55E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| A/G | rs2056391754 |
None | 0.961 | N | 0.497 | 0.243 | 0.326881540566 | gnomAD-4.0.0 | 2.03024E-06 | None | None | None | None | N | None | 0 | 6.1546E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.40252E-05 |
| A/P | None | None | 0.994 | N | 0.699 | 0.416 | 0.391313282164 | gnomAD-4.0.0 | 1.59372E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.86203E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.6256 | likely_pathogenic | 0.5688 | pathogenic | -0.688 | Destabilizing | 0.092 | N | 0.388 | neutral | None | None | None | None | N |
| A/D | 0.9588 | likely_pathogenic | 0.967 | pathogenic | -0.8 | Destabilizing | 0.989 | D | 0.696 | prob.neutral | N | 0.479313755 | None | None | N |
| A/E | 0.9282 | likely_pathogenic | 0.9459 | pathogenic | -0.736 | Destabilizing | 0.991 | D | 0.633 | neutral | None | None | None | None | N |
| A/F | 0.8399 | likely_pathogenic | 0.8677 | pathogenic | -0.543 | Destabilizing | 0.999 | D | 0.765 | deleterious | None | None | None | None | N |
| A/G | 0.4669 | ambiguous | 0.4422 | ambiguous | -0.992 | Destabilizing | 0.961 | D | 0.497 | neutral | N | 0.477792751 | None | None | N |
| A/H | 0.9579 | likely_pathogenic | 0.9659 | pathogenic | -1.247 | Destabilizing | 1.0 | D | 0.749 | deleterious | None | None | None | None | N |
| A/I | 0.4959 | ambiguous | 0.5289 | ambiguous | 0.205 | Stabilizing | 0.996 | D | 0.643 | neutral | None | None | None | None | N |
| A/K | 0.9862 | likely_pathogenic | 0.9904 | pathogenic | -0.95 | Destabilizing | 0.991 | D | 0.626 | neutral | None | None | None | None | N |
| A/L | 0.5132 | ambiguous | 0.5575 | ambiguous | 0.205 | Stabilizing | 0.97 | D | 0.537 | neutral | None | None | None | None | N |
| A/M | 0.5811 | likely_pathogenic | 0.6086 | pathogenic | 0.053 | Stabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| A/N | 0.8862 | likely_pathogenic | 0.8971 | pathogenic | -0.869 | Destabilizing | 0.991 | D | 0.744 | deleterious | None | None | None | None | N |
| A/P | 0.9585 | likely_pathogenic | 0.9695 | pathogenic | -0.03 | Destabilizing | 0.994 | D | 0.699 | prob.neutral | N | 0.467341443 | None | None | N |
| A/Q | 0.9213 | likely_pathogenic | 0.9396 | pathogenic | -0.83 | Destabilizing | 0.996 | D | 0.719 | prob.delet. | None | None | None | None | N |
| A/R | 0.969 | likely_pathogenic | 0.9788 | pathogenic | -0.873 | Destabilizing | 0.996 | D | 0.706 | prob.neutral | None | None | None | None | N |
| A/S | 0.2159 | likely_benign | 0.2033 | benign | -1.307 | Destabilizing | 0.489 | N | 0.361 | neutral | N | 0.472452252 | None | None | N |
| A/T | 0.2314 | likely_benign | 0.2317 | benign | -1.115 | Destabilizing | 0.925 | D | 0.481 | neutral | N | 0.473631466 | None | None | N |
| A/V | 0.1963 | likely_benign | 0.2055 | benign | -0.03 | Destabilizing | 0.961 | D | 0.475 | neutral | N | 0.380998958 | None | None | N |
| A/W | 0.98 | likely_pathogenic | 0.9865 | pathogenic | -1.063 | Destabilizing | 1.0 | D | 0.746 | deleterious | None | None | None | None | N |
| A/Y | 0.9285 | likely_pathogenic | 0.9459 | pathogenic | -0.532 | Destabilizing | 0.999 | D | 0.767 | deleterious | 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.