Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 31892 | 95899;95900;95901 | chr2:178545436;178545435;178545434 | chr2:179410163;179410162;179410161 |
| N2AB | 30251 | 90976;90977;90978 | chr2:178545436;178545435;178545434 | chr2:179410163;179410162;179410161 |
| N2A | 29324 | 88195;88196;88197 | chr2:178545436;178545435;178545434 | chr2:179410163;179410162;179410161 |
| N2B | 22827 | 68704;68705;68706 | chr2:178545436;178545435;178545434 | chr2:179410163;179410162;179410161 |
| Novex-1 | 22952 | 69079;69080;69081 | chr2:178545436;178545435;178545434 | chr2:179410163;179410162;179410161 |
| Novex-2 | 23019 | 69280;69281;69282 | chr2:178545436;178545435;178545434 | chr2:179410163;179410162;179410161 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/G | None | None | 0.999 | N | 0.734 | 0.263 | 0.141422826196 | gnomAD-4.0.0 | 3.60097E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.9375E-06 | 0 | 0 |
| S/I | rs186675165  |
0.267 | 1.0 | D | 0.911 | 0.508 | None | gnomAD-2.1.1 | 4.06E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 9E-06 | 0 |
| S/I | rs186675165 |
0.267 | 1.0 | D | 0.911 | 0.508 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 1.47E-05 | 0 | 0 |
| S/I | rs186675165 |
0.267 | 1.0 | D | 0.911 | 0.508 | None | 1000 genomes | 1.99681E-04 | None | None | None | None | N | None | 0 | 0 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| S/I | rs186675165 |
0.267 | 1.0 | D | 0.911 | 0.508 | None | gnomAD-4.0.0 | 2.02959E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.40983E-06 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.4731 | ambiguous | 0.4585 | ambiguous | -0.73 | Destabilizing | 0.998 | D | 0.689 | prob.neutral | None | None | None | None | N |
| S/C | 0.7223 | likely_pathogenic | 0.7407 | pathogenic | -0.817 | Destabilizing | 1.0 | D | 0.881 | deleterious | D | 0.543855619 | None | None | N |
| S/D | 0.9899 | likely_pathogenic | 0.9904 | pathogenic | -1.477 | Destabilizing | 0.999 | D | 0.77 | deleterious | None | None | None | None | N |
| S/E | 0.9962 | likely_pathogenic | 0.9965 | pathogenic | -1.402 | Destabilizing | 0.999 | D | 0.731 | prob.delet. | None | None | None | None | N |
| S/F | 0.9962 | likely_pathogenic | 0.9959 | pathogenic | -0.654 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| S/G | 0.146 | likely_benign | 0.1262 | benign | -1.03 | Destabilizing | 0.999 | D | 0.734 | prob.delet. | N | 0.42902466 | None | None | N |
| S/H | 0.9907 | likely_pathogenic | 0.9911 | pathogenic | -1.429 | Destabilizing | 1.0 | D | 0.883 | deleterious | None | None | None | None | N |
| S/I | 0.9947 | likely_pathogenic | 0.9943 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.911 | deleterious | D | 0.531992334 | None | None | N |
| S/K | 0.9991 | likely_pathogenic | 0.9991 | pathogenic | -0.883 | Destabilizing | 0.999 | D | 0.753 | deleterious | None | None | None | None | N |
| S/L | 0.9667 | likely_pathogenic | 0.9661 | pathogenic | -0.014 | Destabilizing | 1.0 | D | 0.867 | deleterious | None | None | None | None | N |
| S/M | 0.98 | likely_pathogenic | 0.9787 | pathogenic | 0.094 | Stabilizing | 1.0 | D | 0.879 | deleterious | None | None | None | None | N |
| S/N | 0.9594 | likely_pathogenic | 0.9639 | pathogenic | -1.191 | Destabilizing | 0.999 | D | 0.718 | prob.delet. | D | 0.54309515 | None | None | N |
| S/P | 0.9946 | likely_pathogenic | 0.9942 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.86 | deleterious | None | None | None | None | N |
| S/Q | 0.9936 | likely_pathogenic | 0.9939 | pathogenic | -1.258 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| S/R | 0.9979 | likely_pathogenic | 0.998 | pathogenic | -0.84 | Destabilizing | 1.0 | D | 0.866 | deleterious | N | 0.519368581 | None | None | N |
| S/T | 0.712 | likely_pathogenic | 0.719 | pathogenic | -0.984 | Destabilizing | 0.999 | D | 0.715 | prob.delet. | D | 0.542841661 | None | None | N |
| S/V | 0.9887 | likely_pathogenic | 0.9886 | pathogenic | -0.219 | Destabilizing | 1.0 | D | 0.889 | deleterious | None | None | None | None | N |
| S/W | 0.9966 | likely_pathogenic | 0.9961 | pathogenic | -0.774 | Destabilizing | 1.0 | D | 0.927 | deleterious | None | None | None | None | N |
| S/Y | 0.9927 | likely_pathogenic | 0.9928 | pathogenic | -0.439 | Destabilizing | 1.0 | D | 0.93 | 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.