Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 18461 | 55606;55607;55608 | chr2:178601709;178601708;178601707 | chr2:179466436;179466435;179466434 |
| N2AB | 16820 | 50683;50684;50685 | chr2:178601709;178601708;178601707 | chr2:179466436;179466435;179466434 |
| N2A | 15893 | 47902;47903;47904 | chr2:178601709;178601708;178601707 | chr2:179466436;179466435;179466434 |
| N2B | 9396 | 28411;28412;28413 | chr2:178601709;178601708;178601707 | chr2:179466436;179466435;179466434 |
| Novex-1 | 9521 | 28786;28787;28788 | chr2:178601709;178601708;178601707 | chr2:179466436;179466435;179466434 |
| Novex-2 | 9588 | 28987;28988;28989 | chr2:178601709;178601708;178601707 | chr2:179466436;179466435;179466434 |
| 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/P | None | None | 1.0 | D | 0.846 | 0.753 | 0.689580642904 | gnomAD-4.0.0 | 2.05869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.70139E-06 | 0 | 0 |
| A/T | rs776650966  |
-1.429 | 1.0 | D | 0.729 | 0.778 | 0.635445006688 | gnomAD-2.1.1 | 8.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13675E-04 | None | 0 | None | 0 | 0 | 0 |
| A/T | rs776650966 |
-1.429 | 1.0 | D | 0.729 | 0.778 | 0.635445006688 | gnomAD-4.0.0 | 2.05869E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.52832E-05 | None | 0 | 0 | 9.00463E-07 | 1.17758E-05 | 0 |
| A/V | rs1278548100 |
-0.501 | 1.0 | D | 0.64 | 0.577 | 0.568892413138 | gnomAD-2.1.1 | 8.18E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.13701E-04 | None | 0 | None | 0 | 0 | 0 |
| A/V | rs1278548100 |
-0.501 | 1.0 | D | 0.64 | 0.577 | 0.568892413138 | gnomAD-4.0.0 | 1.60242E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 2.78365E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.5855 | likely_pathogenic | 0.6263 | pathogenic | -1.215 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| A/D | 0.9968 | likely_pathogenic | 0.9978 | pathogenic | -1.668 | Destabilizing | 1.0 | D | 0.865 | deleterious | D | 0.595121503 | None | None | N |
| A/E | 0.9892 | likely_pathogenic | 0.992 | pathogenic | -1.703 | Destabilizing | 1.0 | D | 0.829 | deleterious | None | None | None | None | N |
| A/F | 0.948 | likely_pathogenic | 0.9641 | pathogenic | -1.161 | Destabilizing | 1.0 | D | 0.853 | deleterious | None | None | None | None | N |
| A/G | 0.5028 | ambiguous | 0.5034 | ambiguous | -1.117 | Destabilizing | 1.0 | D | 0.572 | neutral | D | 0.578698533 | None | None | N |
| A/H | 0.9941 | likely_pathogenic | 0.996 | pathogenic | -1.23 | Destabilizing | 1.0 | D | 0.837 | deleterious | None | None | None | None | N |
| A/I | 0.5671 | likely_pathogenic | 0.5819 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.841 | deleterious | None | None | None | None | N |
| A/K | 0.997 | likely_pathogenic | 0.9981 | pathogenic | -1.054 | Destabilizing | 1.0 | D | 0.83 | deleterious | None | None | None | None | N |
| A/L | 0.4921 | ambiguous | 0.5435 | ambiguous | -0.439 | Destabilizing | 1.0 | D | 0.779 | deleterious | None | None | None | None | N |
| A/M | 0.7325 | likely_pathogenic | 0.7706 | pathogenic | -0.475 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/N | 0.9878 | likely_pathogenic | 0.9911 | pathogenic | -0.91 | Destabilizing | 1.0 | D | 0.851 | deleterious | None | None | None | None | N |
| A/P | 0.9938 | likely_pathogenic | 0.9959 | pathogenic | -0.553 | Destabilizing | 1.0 | D | 0.846 | deleterious | D | 0.594919698 | None | None | N |
| A/Q | 0.9792 | likely_pathogenic | 0.9847 | pathogenic | -1.139 | Destabilizing | 1.0 | D | 0.823 | deleterious | None | None | None | None | N |
| A/R | 0.9897 | likely_pathogenic | 0.9929 | pathogenic | -0.739 | Destabilizing | 1.0 | D | 0.847 | deleterious | None | None | None | None | N |
| A/S | 0.3594 | ambiguous | 0.3843 | ambiguous | -1.213 | Destabilizing | 1.0 | D | 0.586 | neutral | D | 0.59451609 | None | None | N |
| A/T | 0.3801 | ambiguous | 0.4089 | ambiguous | -1.166 | Destabilizing | 1.0 | D | 0.729 | prob.delet. | D | 0.594314285 | None | None | N |
| A/V | 0.2683 | likely_benign | 0.274 | benign | -0.553 | Destabilizing | 1.0 | D | 0.64 | neutral | D | 0.538684368 | None | None | N |
| A/W | 0.9953 | likely_pathogenic | 0.9972 | pathogenic | -1.459 | Destabilizing | 1.0 | D | 0.808 | deleterious | None | None | None | None | N |
| A/Y | 0.9854 | likely_pathogenic | 0.991 | pathogenic | -1.043 | Destabilizing | 1.0 | D | 0.865 | 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.