Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 20272 | 61039;61040;61041 | chr2:178590911;178590910;178590909 | chr2:179455638;179455637;179455636 |
| N2AB | 18631 | 56116;56117;56118 | chr2:178590911;178590910;178590909 | chr2:179455638;179455637;179455636 |
| N2A | 17704 | 53335;53336;53337 | chr2:178590911;178590910;178590909 | chr2:179455638;179455637;179455636 |
| N2B | 11207 | 33844;33845;33846 | chr2:178590911;178590910;178590909 | chr2:179455638;179455637;179455636 |
| Novex-1 | 11332 | 34219;34220;34221 | chr2:178590911;178590910;178590909 | chr2:179455638;179455637;179455636 |
| Novex-2 | 11399 | 34420;34421;34422 | chr2:178590911;178590910;178590909 | chr2:179455638;179455637;179455636 |
| 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/L | rs760277470  |
-0.454 | 1.0 | D | 0.814 | 0.477 | 0.733223214259 | gnomAD-2.1.1 | 1.61E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 4.66E-05 | 2.68E-05 | 0 |
| P/L | rs760277470 |
-0.454 | 1.0 | D | 0.814 | 0.477 | 0.733223214259 | gnomAD-4.0.0 | 4.7937E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 3.74756E-05 | 0 | 4.50115E-06 | 0 | 0 |
| P/S | rs945591043 |
None | 1.0 | D | 0.769 | 0.471 | 0.561140804229 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| P/S | rs945591043 |
None | 1.0 | D | 0.769 | 0.471 | 0.561140804229 | gnomAD-4.0.0 | 1.31517E-05 | None | None | None | None | N | None | 4.82742E-05 | 0 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.701 | likely_pathogenic | 0.6872 | pathogenic | -1.267 | Destabilizing | 0.999 | D | 0.797 | deleterious | N | 0.51723635 | None | None | N |
| P/C | 0.965 | likely_pathogenic | 0.9643 | pathogenic | -1.733 | Destabilizing | 1.0 | D | 0.738 | deleterious | None | None | None | None | N |
| P/D | 0.9985 | likely_pathogenic | 0.9986 | pathogenic | -2.46 | Highly Destabilizing | 1.0 | D | 0.795 | deleterious | None | None | None | None | N |
| P/E | 0.9962 | likely_pathogenic | 0.9965 | pathogenic | -2.464 | Highly Destabilizing | 1.0 | D | 0.786 | deleterious | None | None | None | None | N |
| P/F | 0.9988 | likely_pathogenic | 0.999 | pathogenic | -1.333 | Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/G | 0.9862 | likely_pathogenic | 0.9856 | pathogenic | -1.522 | Destabilizing | 1.0 | D | 0.792 | deleterious | None | None | None | None | N |
| P/H | 0.9944 | likely_pathogenic | 0.9951 | pathogenic | -1.031 | Destabilizing | 1.0 | D | 0.73 | deleterious | None | None | None | None | N |
| P/I | 0.9797 | likely_pathogenic | 0.9771 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.722 | deleterious | None | None | None | None | N |
| P/K | 0.9972 | likely_pathogenic | 0.9973 | pathogenic | -1.18 | Destabilizing | 1.0 | D | 0.787 | deleterious | None | None | None | None | N |
| P/L | 0.9406 | likely_pathogenic | 0.9408 | pathogenic | -0.658 | Destabilizing | 1.0 | D | 0.814 | deleterious | D | 0.527325208 | None | None | N |
| P/M | 0.9927 | likely_pathogenic | 0.9923 | pathogenic | -0.73 | Destabilizing | 1.0 | D | 0.729 | deleterious | None | None | None | None | N |
| P/N | 0.9979 | likely_pathogenic | 0.9981 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/Q | 0.9907 | likely_pathogenic | 0.9919 | pathogenic | -1.587 | Destabilizing | 1.0 | D | 0.819 | deleterious | D | 0.544494864 | None | None | N |
| P/R | 0.9885 | likely_pathogenic | 0.9895 | pathogenic | -0.662 | Destabilizing | 1.0 | D | 0.793 | deleterious | D | 0.537493425 | None | None | N |
| P/S | 0.9422 | likely_pathogenic | 0.9426 | pathogenic | -1.687 | Destabilizing | 1.0 | D | 0.769 | deleterious | D | 0.52588363 | None | None | N |
| P/T | 0.9485 | likely_pathogenic | 0.9486 | pathogenic | -1.591 | Destabilizing | 1.0 | D | 0.779 | deleterious | D | 0.525630141 | None | None | N |
| P/V | 0.9346 | likely_pathogenic | 0.9274 | pathogenic | -0.831 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| P/W | 0.9997 | likely_pathogenic | 0.9997 | pathogenic | -1.531 | Destabilizing | 1.0 | D | 0.712 | prob.delet. | None | None | None | None | N |
| P/Y | 0.9989 | likely_pathogenic | 0.9989 | pathogenic | -1.145 | Destabilizing | 1.0 | D | 0.79 | 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.