Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9932 | 30019;30020;30021 | chr2:178704678;178704677;178704676 | chr2:179569405;179569404;179569403 |
| N2AB | 9615 | 29068;29069;29070 | chr2:178704678;178704677;178704676 | chr2:179569405;179569404;179569403 |
| N2A | 8688 | 26287;26288;26289 | chr2:178704678;178704677;178704676 | chr2:179569405;179569404;179569403 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/I | rs753689443  |
-1.109 | 0.999 | None | 0.511 | 0.277 | 0.595953376904 | gnomAD-2.1.1 | 4.08E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 5.66E-05 | None | 0 | None | 0 | 0 | 0 |
| L/I | rs753689443 |
-1.109 | 0.999 | None | 0.511 | 0.277 | 0.595953376904 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 1.92604E-04 | None | 0 | 0 | 0 | 0 | 0 |
| L/P | rs1300557715 |
-1.586 | 1.0 | None | 0.823 | 0.775 | 0.840140036523 | gnomAD-2.1.1 | 1.22E-05 | None | None | None | None | I | None | 0 | 8.8E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| L/P | rs1300557715 |
-1.586 | 1.0 | None | 0.823 | 0.775 | 0.840140036523 | gnomAD-4.0.0 | 4.78761E-06 | None | None | None | None | I | None | 0 | 6.89592E-05 | None | 0 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| L/A | 0.8967 | likely_pathogenic | 0.9125 | pathogenic | -2.168 | Highly Destabilizing | 0.999 | D | 0.684 | prob.neutral | None | None | None | None | I |
| L/C | 0.92 | likely_pathogenic | 0.934 | pathogenic | -1.285 | Destabilizing | 1.0 | D | 0.791 | deleterious | None | None | None | None | I |
| L/D | 0.9965 | likely_pathogenic | 0.9963 | pathogenic | -2.102 | Highly Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| L/E | 0.9843 | likely_pathogenic | 0.9825 | pathogenic | -1.97 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| L/F | 0.8377 | likely_pathogenic | 0.8465 | pathogenic | -1.417 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| L/G | 0.9819 | likely_pathogenic | 0.9815 | pathogenic | -2.577 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | I |
| L/H | 0.968 | likely_pathogenic | 0.9711 | pathogenic | -1.641 | Destabilizing | 1.0 | D | 0.797 | deleterious | None | None | None | None | I |
| L/I | 0.4291 | ambiguous | 0.4486 | ambiguous | -1.032 | Destabilizing | 0.999 | D | 0.511 | neutral | None | None | None | None | I |
| L/K | 0.9476 | likely_pathogenic | 0.9462 | pathogenic | -1.541 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | I |
| L/M | 0.4845 | ambiguous | 0.4971 | ambiguous | -0.875 | Destabilizing | 1.0 | D | 0.734 | prob.delet. | None | None | None | None | I |
| L/N | 0.9745 | likely_pathogenic | 0.9776 | pathogenic | -1.645 | Destabilizing | 1.0 | D | 0.824 | deleterious | None | None | None | None | I |
| L/P | 0.9552 | likely_pathogenic | 0.9562 | pathogenic | -1.388 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | I |
| L/Q | 0.9492 | likely_pathogenic | 0.9536 | pathogenic | -1.677 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | I |
| L/R | 0.9442 | likely_pathogenic | 0.9409 | pathogenic | -1.075 | Destabilizing | 1.0 | D | 0.79 | deleterious | None | None | None | None | I |
| L/S | 0.9756 | likely_pathogenic | 0.9813 | pathogenic | -2.249 | Highly Destabilizing | 1.0 | D | 0.773 | deleterious | None | None | None | None | I |
| L/T | 0.8759 | likely_pathogenic | 0.9053 | pathogenic | -1.983 | Destabilizing | 1.0 | D | 0.788 | deleterious | None | None | None | None | I |
| L/V | 0.4391 | ambiguous | 0.4747 | ambiguous | -1.388 | Destabilizing | 0.999 | D | 0.495 | neutral | None | None | None | None | I |
| L/W | 0.9563 | likely_pathogenic | 0.9492 | pathogenic | -1.564 | Destabilizing | 1.0 | D | 0.77 | deleterious | None | None | None | None | I |
| L/Y | 0.9508 | likely_pathogenic | 0.9536 | pathogenic | -1.319 | Destabilizing | 1.0 | D | 0.803 | deleterious | 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.