Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 17275 | 52048;52049;52050 | chr2:178609487;178609486;178609485 | chr2:179474214;179474213;179474212 |
| N2AB | 15634 | 47125;47126;47127 | chr2:178609487;178609486;178609485 | chr2:179474214;179474213;179474212 |
| N2A | 14707 | 44344;44345;44346 | chr2:178609487;178609486;178609485 | chr2:179474214;179474213;179474212 |
| N2B | 8210 | 24853;24854;24855 | chr2:178609487;178609486;178609485 | chr2:179474214;179474213;179474212 |
| Novex-1 | 8335 | 25228;25229;25230 | chr2:178609487;178609486;178609485 | chr2:179474214;179474213;179474212 |
| Novex-2 | 8402 | 25429;25430;25431 | chr2:178609487;178609486;178609485 | chr2:179474214;179474213;179474212 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/H | None | None | 0.999 | D | 0.661 | 0.766 | 0.611492100817 | gnomAD-4.0.0 | 1.36941E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.79982E-06 | 0 | 0 |
| P/S | rs752852690  |
-0.148 | 0.989 | D | 0.657 | 0.691 | 0.590995569847 | gnomAD-2.1.1 | 1.43E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 3.14E-05 | 0 |
| P/S | rs752852690 |
-0.148 | 0.989 | D | 0.657 | 0.691 | 0.590995569847 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| P/S | rs752852690 |
-0.148 | 0.989 | D | 0.657 | 0.691 | 0.590995569847 | gnomAD-4.0.0 | 1.1784E-05 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.61135E-05 | 0 | 0 |
| P/T | None | None | 0.978 | D | 0.656 | 0.705 | 0.627559020554 | gnomAD-4.0.0 | 6.84704E-07 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99913E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.9584 | likely_pathogenic | 0.9529 | pathogenic | -0.774 | Destabilizing | 0.928 | D | 0.609 | neutral | D | 0.550757921 | None | None | I |
| P/C | 0.9954 | likely_pathogenic | 0.9945 | pathogenic | -0.39 | Destabilizing | 0.999 | D | 0.699 | prob.neutral | None | None | None | None | I |
| P/D | 0.9905 | likely_pathogenic | 0.987 | pathogenic | -0.675 | Destabilizing | 0.997 | D | 0.641 | neutral | None | None | None | None | I |
| P/E | 0.9896 | likely_pathogenic | 0.9863 | pathogenic | -0.793 | Destabilizing | 0.992 | D | 0.649 | neutral | None | None | None | None | I |
| P/F | 0.9981 | likely_pathogenic | 0.9976 | pathogenic | -1.032 | Destabilizing | 0.991 | D | 0.695 | prob.neutral | None | None | None | None | I |
| P/G | 0.9848 | likely_pathogenic | 0.9818 | pathogenic | -0.931 | Destabilizing | 0.992 | D | 0.647 | neutral | None | None | None | None | I |
| P/H | 0.9814 | likely_pathogenic | 0.978 | pathogenic | -0.604 | Destabilizing | 0.999 | D | 0.661 | neutral | D | 0.589490625 | None | None | I |
| P/I | 0.9854 | likely_pathogenic | 0.9819 | pathogenic | -0.499 | Destabilizing | 0.968 | D | 0.666 | neutral | None | None | None | None | I |
| P/K | 0.9837 | likely_pathogenic | 0.9796 | pathogenic | -0.613 | Destabilizing | 0.992 | D | 0.655 | neutral | None | None | None | None | I |
| P/L | 0.9662 | likely_pathogenic | 0.9624 | pathogenic | -0.499 | Destabilizing | 0.085 | N | 0.436 | neutral | D | 0.605742151 | None | None | I |
| P/M | 0.9935 | likely_pathogenic | 0.992 | pathogenic | -0.288 | Destabilizing | 0.996 | D | 0.66 | neutral | None | None | None | None | I |
| P/N | 0.9892 | likely_pathogenic | 0.9864 | pathogenic | -0.184 | Destabilizing | 0.997 | D | 0.664 | neutral | None | None | None | None | I |
| P/Q | 0.9835 | likely_pathogenic | 0.9801 | pathogenic | -0.478 | Destabilizing | 0.997 | D | 0.656 | neutral | None | None | None | None | I |
| P/R | 0.9531 | likely_pathogenic | 0.9467 | pathogenic | -0.04 | Destabilizing | 0.989 | D | 0.659 | neutral | D | 0.605338542 | None | None | I |
| P/S | 0.9818 | likely_pathogenic | 0.9787 | pathogenic | -0.507 | Destabilizing | 0.989 | D | 0.657 | neutral | D | 0.550250942 | None | None | I |
| P/T | 0.9587 | likely_pathogenic | 0.9521 | pathogenic | -0.533 | Destabilizing | 0.978 | D | 0.656 | neutral | D | 0.605338542 | None | None | I |
| P/V | 0.9723 | likely_pathogenic | 0.9672 | pathogenic | -0.556 | Destabilizing | 0.968 | D | 0.639 | neutral | None | None | None | None | I |
| P/W | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -1.126 | Destabilizing | 0.999 | D | 0.713 | prob.delet. | None | None | None | None | I |
| P/Y | 0.9968 | likely_pathogenic | 0.9959 | pathogenic | -0.836 | Destabilizing | 0.998 | D | 0.685 | prob.neutral | None | None | None | None | I |
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.