Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 19858 | 59797;59798;59799 | chr2:178592433;178592432;178592431 | chr2:179457160;179457159;179457158 |
| N2AB | 18217 | 54874;54875;54876 | chr2:178592433;178592432;178592431 | chr2:179457160;179457159;179457158 |
| N2A | 17290 | 52093;52094;52095 | chr2:178592433;178592432;178592431 | chr2:179457160;179457159;179457158 |
| N2B | 10793 | 32602;32603;32604 | chr2:178592433;178592432;178592431 | chr2:179457160;179457159;179457158 |
| Novex-1 | 10918 | 32977;32978;32979 | chr2:178592433;178592432;178592431 | chr2:179457160;179457159;179457158 |
| Novex-2 | 10985 | 33178;33179;33180 | chr2:178592433;178592432;178592431 | chr2:179457160;179457159;179457158 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/I | rs757911359  |
-0.013 | 1.0 | D | 0.871 | 0.445 | 0.562807121957 | gnomAD-2.1.1 | 7.66E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 6.21199E-04 | None | 0 | 0 | 0 |
| T/I | rs757911359 |
-0.013 | 1.0 | D | 0.871 | 0.445 | 0.562807121957 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 4.13907E-04 | 0 |
| T/I | rs757911359 |
-0.013 | 1.0 | D | 0.871 | 0.445 | 0.562807121957 | gnomAD-4.0.0 | 4.27689E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 7.35811E-04 | 3.20287E-05 |
| T/K | None | None | 1.0 | D | 0.86 | 0.498 | 0.536709800451 | gnomAD-4.0.0 | 6.84349E-07 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 1.65689E-05 |
| T/R | rs757911359 |
None | 1.0 | D | 0.872 | 0.513 | 0.612832922585 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/R | rs757911359 |
None | 1.0 | D | 0.872 | 0.513 | 0.612832922585 | gnomAD-4.0.0 | 1.85952E-06 | None | None | None | None | N | None | 2.67044E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 8.47754E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1297 | likely_benign | 0.1339 | benign | -0.966 | Destabilizing | 0.999 | D | 0.587 | neutral | N | 0.488694978 | None | None | N |
| T/C | 0.4282 | ambiguous | 0.4237 | ambiguous | -0.977 | Destabilizing | 1.0 | D | 0.834 | deleterious | None | None | None | None | N |
| T/D | 0.6692 | likely_pathogenic | 0.6797 | pathogenic | -1.311 | Destabilizing | 1.0 | D | 0.863 | deleterious | None | None | None | None | N |
| T/E | 0.4478 | ambiguous | 0.4475 | ambiguous | -1.247 | Destabilizing | 1.0 | D | 0.857 | deleterious | None | None | None | None | N |
| T/F | 0.363 | ambiguous | 0.3551 | ambiguous | -1.033 | Destabilizing | 1.0 | D | 0.907 | deleterious | None | None | None | None | N |
| T/G | 0.4514 | ambiguous | 0.5022 | ambiguous | -1.251 | Destabilizing | 1.0 | D | 0.819 | deleterious | None | None | None | None | N |
| T/H | 0.2881 | likely_benign | 0.3092 | benign | -1.555 | Destabilizing | 1.0 | D | 0.885 | deleterious | None | None | None | None | N |
| T/I | 0.2179 | likely_benign | 0.1971 | benign | -0.277 | Destabilizing | 1.0 | D | 0.871 | deleterious | D | 0.524266703 | None | None | N |
| T/K | 0.2794 | likely_benign | 0.2861 | benign | -0.778 | Destabilizing | 1.0 | D | 0.86 | deleterious | D | 0.528573657 | None | None | N |
| T/L | 0.1466 | likely_benign | 0.146 | benign | -0.277 | Destabilizing | 0.999 | D | 0.743 | deleterious | None | None | None | None | N |
| T/M | 0.0974 | likely_benign | 0.091 | benign | -0.07 | Destabilizing | 1.0 | D | 0.831 | deleterious | None | None | None | None | N |
| T/N | 0.2455 | likely_benign | 0.2443 | benign | -1.065 | Destabilizing | 1.0 | D | 0.761 | deleterious | None | None | None | None | N |
| T/P | 0.9057 | likely_pathogenic | 0.9362 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.863 | deleterious | D | 0.539426571 | None | None | N |
| T/Q | 0.2579 | likely_benign | 0.2749 | benign | -1.227 | Destabilizing | 1.0 | D | 0.881 | deleterious | None | None | None | None | N |
| T/R | 0.2322 | likely_benign | 0.2562 | benign | -0.62 | Destabilizing | 1.0 | D | 0.872 | deleterious | D | 0.5307686 | None | None | N |
| T/S | 0.1699 | likely_benign | 0.1794 | benign | -1.244 | Destabilizing | 0.999 | D | 0.573 | neutral | D | 0.531462034 | None | None | N |
| T/V | 0.1715 | likely_benign | 0.1593 | benign | -0.476 | Destabilizing | 0.999 | D | 0.625 | neutral | None | None | None | None | N |
| T/W | 0.6798 | likely_pathogenic | 0.7167 | pathogenic | -1.03 | Destabilizing | 1.0 | D | 0.859 | deleterious | None | None | None | None | N |
| T/Y | 0.4111 | ambiguous | 0.4252 | ambiguous | -0.708 | Destabilizing | 1.0 | D | 0.897 | 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.