Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20189 | 60790;60791;60792 | chr2:178591160;178591159;178591158 | chr2:179455887;179455886;179455885 |
| N2AB | 18548 | 55867;55868;55869 | chr2:178591160;178591159;178591158 | chr2:179455887;179455886;179455885 |
| N2A | 17621 | 53086;53087;53088 | chr2:178591160;178591159;178591158 | chr2:179455887;179455886;179455885 |
| N2B | 11124 | 33595;33596;33597 | chr2:178591160;178591159;178591158 | chr2:179455887;179455886;179455885 |
| Novex-1 | 11249 | 33970;33971;33972 | chr2:178591160;178591159;178591158 | chr2:179455887;179455886;179455885 |
| Novex-2 | 11316 | 34171;34172;34173 | chr2:178591160;178591159;178591158 | chr2:179455887;179455886;179455885 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/I | rs771935490  |
-0.035 | 0.985 | N | 0.643 | 0.374 | 0.477762074677 | gnomAD-2.1.1 | 8.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.78E-05 | 0 |
| M/I | rs771935490 |
-0.035 | 0.985 | N | 0.643 | 0.374 | 0.477762074677 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| M/I | rs771935490 |
-0.035 | 0.985 | N | 0.643 | 0.374 | 0.477762074677 | gnomAD-4.0.0 | 1.59219E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85986E-06 | 0 | 0 |
| M/R | None | None | 0.998 | N | 0.834 | 0.531 | 0.707671129094 | gnomAD-4.0.0 | 6.8438E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99628E-07 | 0 | 0 |
| M/T | rs2050118678 |
None | 0.994 | N | 0.798 | 0.465 | 0.69509227681 | gnomAD-4.0.0 | 2.73752E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 4.63865E-05 | 0 |
| M/V | rs2050119125 |
None | 0.985 | N | 0.514 | 0.385 | 0.43912465853 | gnomAD-4.0.0 | 4.79064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 5.39778E-06 | 0 | 1.65706E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| M/A | 0.6671 | likely_pathogenic | 0.7323 | pathogenic | -2.183 | Highly Destabilizing | 0.989 | D | 0.715 | prob.delet. | None | None | None | None | N |
| M/C | 0.7551 | likely_pathogenic | 0.7212 | pathogenic | -2.534 | Highly Destabilizing | 1.0 | D | 0.799 | deleterious | None | None | None | None | N |
| M/D | 0.9987 | likely_pathogenic | 0.999 | pathogenic | -2.392 | Highly Destabilizing | 0.999 | D | 0.843 | deleterious | None | None | None | None | N |
| M/E | 0.9833 | likely_pathogenic | 0.9882 | pathogenic | -2.136 | Highly Destabilizing | 0.999 | D | 0.807 | deleterious | None | None | None | None | N |
| M/F | 0.8049 | likely_pathogenic | 0.8146 | pathogenic | -0.612 | Destabilizing | 0.999 | D | 0.723 | prob.delet. | None | None | None | None | N |
| M/G | 0.959 | likely_pathogenic | 0.9708 | pathogenic | -2.665 | Highly Destabilizing | 0.995 | D | 0.779 | deleterious | None | None | None | None | N |
| M/H | 0.9881 | likely_pathogenic | 0.9909 | pathogenic | -2.462 | Highly Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| M/I | 0.5518 | ambiguous | 0.5765 | pathogenic | -0.783 | Destabilizing | 0.985 | D | 0.643 | neutral | N | 0.404587575 | None | None | N |
| M/K | 0.9392 | likely_pathogenic | 0.9572 | pathogenic | -1.498 | Destabilizing | 0.994 | D | 0.797 | deleterious | N | 0.485973412 | None | None | N |
| M/L | 0.3052 | likely_benign | 0.3431 | ambiguous | -0.783 | Destabilizing | 0.927 | D | 0.425 | neutral | N | 0.442511245 | None | None | N |
| M/N | 0.9855 | likely_pathogenic | 0.9897 | pathogenic | -1.988 | Destabilizing | 0.999 | D | 0.825 | deleterious | None | None | None | None | N |
| M/P | 0.9988 | likely_pathogenic | 0.9991 | pathogenic | -1.235 | Destabilizing | 0.999 | D | 0.827 | deleterious | None | None | None | None | N |
| M/Q | 0.894 | likely_pathogenic | 0.9102 | pathogenic | -1.592 | Destabilizing | 0.999 | D | 0.735 | prob.delet. | None | None | None | None | N |
| M/R | 0.9434 | likely_pathogenic | 0.9589 | pathogenic | -1.754 | Destabilizing | 0.998 | D | 0.834 | deleterious | N | 0.485973412 | None | None | N |
| M/S | 0.9111 | likely_pathogenic | 0.9308 | pathogenic | -2.46 | Highly Destabilizing | 0.995 | D | 0.781 | deleterious | None | None | None | None | N |
| M/T | 0.7489 | likely_pathogenic | 0.8087 | pathogenic | -2.076 | Highly Destabilizing | 0.994 | D | 0.798 | deleterious | N | 0.467362178 | None | None | N |
| M/V | 0.1409 | likely_benign | 0.1495 | benign | -1.235 | Destabilizing | 0.985 | D | 0.514 | neutral | N | 0.394119865 | None | None | N |
| M/W | 0.9885 | likely_pathogenic | 0.9906 | pathogenic | -1.033 | Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | N |
| M/Y | 0.9743 | likely_pathogenic | 0.9774 | pathogenic | -1.014 | Destabilizing | 0.999 | D | 0.839 | 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.