Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35150 | 105673;105674;105675 | chr2:178531167;178531166;178531165 | chr2:179395894;179395893;179395892 |
| N2AB | 33509 | 100750;100751;100752 | chr2:178531167;178531166;178531165 | chr2:179395894;179395893;179395892 |
| N2A | 32582 | 97969;97970;97971 | chr2:178531167;178531166;178531165 | chr2:179395894;179395893;179395892 |
| N2B | 26085 | 78478;78479;78480 | chr2:178531167;178531166;178531165 | chr2:179395894;179395893;179395892 |
| Novex-1 | 26210 | 78853;78854;78855 | chr2:178531167;178531166;178531165 | chr2:179395894;179395893;179395892 |
| Novex-2 | 26277 | 79054;79055;79056 | chr2:178531167;178531166;178531165 | chr2:179395894;179395893;179395892 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/S | None | None | 1.0 | D | 0.849 | 0.697 | 0.735643650146 | gnomAD-4.0.0 | 2.40064E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.625E-06 | 0 | 0 |
| C/Y | rs554953169  |
-1.672 | 1.0 | D | 0.935 | 0.661 | 0.798006484268 | gnomAD-2.1.1 | 3.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 2.61438E-04 | None | 0 | 8.86E-06 | 0 |
| C/Y | rs554953169 |
-1.672 | 1.0 | D | 0.935 | 0.661 | 0.798006484268 | gnomAD-3.1.2 | 3.29E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 6.21891E-04 | 0 |
| C/Y | rs554953169 |
-1.672 | 1.0 | D | 0.935 | 0.661 | 0.798006484268 | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 0 | None | None | None | 1E-03 | None |
| C/Y | rs554953169 |
-1.672 | 1.0 | D | 0.935 | 0.661 | 0.798006484268 | gnomAD-4.0.0 | 3.65547E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 1.64962E-04 | 2.03409E-05 | 3.73306E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| C/A | 0.8215 | likely_pathogenic | 0.8084 | pathogenic | -1.699 | Destabilizing | 0.998 | D | 0.725 | prob.delet. | None | None | None | None | N |
| C/D | 0.9988 | likely_pathogenic | 0.9986 | pathogenic | -1.717 | Destabilizing | 1.0 | D | 0.918 | deleterious | None | None | None | None | N |
| C/E | 0.9992 | likely_pathogenic | 0.999 | pathogenic | -1.499 | Destabilizing | 1.0 | D | 0.937 | deleterious | None | None | None | None | N |
| C/F | 0.7671 | likely_pathogenic | 0.7561 | pathogenic | -1.253 | Destabilizing | 1.0 | D | 0.923 | deleterious | D | 0.544632995 | None | None | N |
| C/G | 0.7831 | likely_pathogenic | 0.7751 | pathogenic | -2.043 | Highly Destabilizing | 1.0 | D | 0.907 | deleterious | D | 0.53327669 | None | None | N |
| C/H | 0.9944 | likely_pathogenic | 0.9936 | pathogenic | -2.381 | Highly Destabilizing | 1.0 | D | 0.931 | deleterious | None | None | None | None | N |
| C/I | 0.8295 | likely_pathogenic | 0.7766 | pathogenic | -0.781 | Destabilizing | 1.0 | D | 0.862 | deleterious | None | None | None | None | N |
| C/K | 0.9994 | likely_pathogenic | 0.9993 | pathogenic | -1.155 | Destabilizing | 1.0 | D | 0.917 | deleterious | None | None | None | None | N |
| C/L | 0.8064 | likely_pathogenic | 0.7568 | pathogenic | -0.781 | Destabilizing | 0.999 | D | 0.791 | deleterious | None | None | None | None | N |
| C/M | 0.9383 | likely_pathogenic | 0.9221 | pathogenic | -0.032 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| C/N | 0.9937 | likely_pathogenic | 0.9926 | pathogenic | -1.728 | Destabilizing | 1.0 | D | 0.934 | deleterious | None | None | None | None | N |
| C/P | 0.9986 | likely_pathogenic | 0.9987 | pathogenic | -1.064 | Destabilizing | 1.0 | D | 0.936 | deleterious | None | None | None | None | N |
| C/Q | 0.9969 | likely_pathogenic | 0.9964 | pathogenic | -1.331 | Destabilizing | 1.0 | D | 0.947 | deleterious | None | None | None | None | N |
| C/R | 0.9914 | likely_pathogenic | 0.9903 | pathogenic | -1.532 | Destabilizing | 1.0 | D | 0.939 | deleterious | D | 0.544886485 | None | None | N |
| C/S | 0.8617 | likely_pathogenic | 0.857 | pathogenic | -2.009 | Highly Destabilizing | 1.0 | D | 0.849 | deleterious | D | 0.53327669 | None | None | N |
| C/T | 0.8976 | likely_pathogenic | 0.8769 | pathogenic | -1.605 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| C/V | 0.6826 | likely_pathogenic | 0.6182 | pathogenic | -1.064 | Destabilizing | 0.999 | D | 0.816 | deleterious | None | None | None | None | N |
| C/W | 0.9716 | likely_pathogenic | 0.9725 | pathogenic | -1.652 | Destabilizing | 1.0 | D | 0.916 | deleterious | D | 0.544886485 | None | None | N |
| C/Y | 0.9514 | likely_pathogenic | 0.9475 | pathogenic | -1.418 | Destabilizing | 1.0 | D | 0.935 | deleterious | D | 0.544632995 | 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.