Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6580 | 19963;19964;19965 | chr2:178727840;178727839;178727838 | chr2:179592567;179592566;179592565 |
| N2AB | 6263 | 19012;19013;19014 | chr2:178727840;178727839;178727838 | chr2:179592567;179592566;179592565 |
| N2A | 5336 | 16231;16232;16233 | chr2:178727840;178727839;178727838 | chr2:179592567;179592566;179592565 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/S | rs116572520  |
-0.651 | 1.0 | N | 0.79 | 0.579 | None | gnomAD-2.1.1 | 6.00326E-04 | None | None | None | None | N | None | 6.36729E-03 | 1.53638E-04 | None | 0 | 0 | None | 0 | None | 0 | 8.1E-06 | 2.96824E-04 |
| P/S | rs116572520 |
-0.651 | 1.0 | N | 0.79 | 0.579 | None | gnomAD-3.1.2 | 1.81524E-03 | None | None | None | None | N | None | 6.40066E-03 | 4.59016E-04 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 2.07211E-04 | 9.56938E-04 |
| P/S | rs116572520 |
-0.651 | 1.0 | N | 0.79 | 0.579 | None | 1000 genomes | 3.39457E-03 | None | None | None | None | N | None | 1.29E-02 | 0 | None | None | 0 | 0 | None | None | None | 0 | None |
| P/S | rs116572520 |
-0.651 | 1.0 | N | 0.79 | 0.579 | None | gnomAD-4.0.0 | 3.29817E-04 | None | None | None | None | N | None | 6.36513E-03 | 2.78581E-04 | None | 0 | 0 | None | 0 | 0 | 1.1102E-05 | 2.3034E-05 | 3.73377E-04 |
| P/T | rs116572520 |
-0.624 | 1.0 | N | 0.757 | 0.515 | 0.548949488234 | gnomAD-2.1.1 | 8.51E-06 | None | None | None | None | N | None | 0 | 6.31E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| P/T | rs116572520 |
-0.624 | 1.0 | N | 0.757 | 0.515 | 0.548949488234 | gnomAD-4.0.0 | 1.38633E-06 | None | None | None | None | N | None | 0 | 4.74316E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| P/A | 0.2045 | likely_benign | 0.2591 | benign | -1.644 | Destabilizing | 0.998 | D | 0.561 | neutral | N | 0.519694069 | None | None | N |
| P/C | 0.8722 | likely_pathogenic | 0.9051 | pathogenic | -1.087 | Destabilizing | 1.0 | D | 0.811 | deleterious | None | None | None | None | N |
| P/D | 0.9192 | likely_pathogenic | 0.9506 | pathogenic | -1.179 | Destabilizing | 1.0 | D | 0.81 | deleterious | None | None | None | None | N |
| P/E | 0.7663 | likely_pathogenic | 0.8522 | pathogenic | -1.057 | Destabilizing | 1.0 | D | 0.801 | deleterious | None | None | None | None | N |
| P/F | 0.8819 | likely_pathogenic | 0.9375 | pathogenic | -0.998 | Destabilizing | 1.0 | D | 0.833 | deleterious | None | None | None | None | N |
| P/G | 0.7378 | likely_pathogenic | 0.8094 | pathogenic | -2.097 | Highly Destabilizing | 1.0 | D | 0.781 | deleterious | None | None | None | None | N |
| P/H | 0.7882 | likely_pathogenic | 0.8731 | pathogenic | -1.618 | Destabilizing | 1.0 | D | 0.791 | deleterious | D | 0.532317822 | None | None | N |
| P/I | 0.5575 | ambiguous | 0.6518 | pathogenic | -0.445 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/K | 0.8799 | likely_pathogenic | 0.9416 | pathogenic | -1.19 | Destabilizing | 1.0 | D | 0.803 | deleterious | None | None | None | None | N |
| P/L | 0.221 | likely_benign | 0.3325 | benign | -0.445 | Destabilizing | 1.0 | D | 0.752 | deleterious | N | 0.472388607 | None | None | N |
| P/M | 0.584 | likely_pathogenic | 0.7183 | pathogenic | -0.397 | Destabilizing | 1.0 | D | 0.805 | deleterious | None | None | None | None | N |
| P/N | 0.8746 | likely_pathogenic | 0.9254 | pathogenic | -1.178 | Destabilizing | 1.0 | D | 0.825 | deleterious | None | None | None | None | N |
| P/Q | 0.689 | likely_pathogenic | 0.8108 | pathogenic | -1.14 | Destabilizing | 1.0 | D | 0.813 | deleterious | None | None | None | None | N |
| P/R | 0.7733 | likely_pathogenic | 0.8717 | pathogenic | -0.944 | Destabilizing | 1.0 | D | 0.824 | deleterious | D | 0.531810843 | None | None | N |
| P/S | 0.6108 | likely_pathogenic | 0.7046 | pathogenic | -1.88 | Destabilizing | 1.0 | D | 0.79 | deleterious | N | 0.513617682 | None | None | N |
| P/T | 0.3593 | ambiguous | 0.4528 | ambiguous | -1.613 | Destabilizing | 1.0 | D | 0.757 | deleterious | N | 0.520201048 | None | None | N |
| P/V | 0.414 | ambiguous | 0.5038 | ambiguous | -0.811 | Destabilizing | 0.973 | D | 0.409 | neutral | None | None | None | None | N |
| P/W | 0.9578 | likely_pathogenic | 0.9768 | pathogenic | -1.292 | Destabilizing | 1.0 | D | 0.793 | deleterious | None | None | None | None | N |
| P/Y | 0.914 | likely_pathogenic | 0.9544 | pathogenic | -0.939 | Destabilizing | 1.0 | D | 0.824 | 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.