Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 29180 | 87763;87764;87765 | chr2:178557816;178557815;178557814 | chr2:179422543;179422542;179422541 |
| N2AB | 27539 | 82840;82841;82842 | chr2:178557816;178557815;178557814 | chr2:179422543;179422542;179422541 |
| N2A | 26612 | 80059;80060;80061 | chr2:178557816;178557815;178557814 | chr2:179422543;179422542;179422541 |
| N2B | 20115 | 60568;60569;60570 | chr2:178557816;178557815;178557814 | chr2:179422543;179422542;179422541 |
| Novex-1 | 20240 | 60943;60944;60945 | chr2:178557816;178557815;178557814 | chr2:179422543;179422542;179422541 |
| Novex-2 | 20307 | 61144;61145;61146 | chr2:178557816;178557815;178557814 | chr2:179422543;179422542;179422541 |
| 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 | rs375586936  |
None | 1.0 | N | 0.671 | 0.473 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/I | rs375586936 |
None | 1.0 | N | 0.671 | 0.473 | None | gnomAD-4.0.0 | 1.8588E-06 | None | None | None | None | N | None | 3.99744E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.1575 | likely_benign | 0.1821 | benign | -0.764 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.45648898 | None | None | N |
| T/C | 0.7027 | likely_pathogenic | 0.73 | pathogenic | -0.476 | Destabilizing | 1.0 | D | 0.617 | neutral | None | None | None | None | N |
| T/D | 0.8035 | likely_pathogenic | 0.8438 | pathogenic | -0.54 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | None | None | None | None | N |
| T/E | 0.7235 | likely_pathogenic | 0.7738 | pathogenic | -0.572 | Destabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| T/F | 0.7184 | likely_pathogenic | 0.7711 | pathogenic | -0.95 | Destabilizing | 1.0 | D | 0.708 | prob.delet. | None | None | None | None | N |
| T/G | 0.5099 | ambiguous | 0.5642 | pathogenic | -0.983 | Destabilizing | 1.0 | D | 0.677 | prob.neutral | None | None | None | None | N |
| T/H | 0.7023 | likely_pathogenic | 0.7425 | pathogenic | -1.26 | Destabilizing | 1.0 | D | 0.66 | neutral | None | None | None | None | N |
| T/I | 0.4424 | ambiguous | 0.5351 | ambiguous | -0.279 | Destabilizing | 1.0 | D | 0.671 | neutral | N | 0.515710642 | None | None | N |
| T/K | 0.4926 | ambiguous | 0.5168 | ambiguous | -0.788 | Destabilizing | 1.0 | D | 0.701 | prob.neutral | N | 0.48569438 | None | None | N |
| T/L | 0.2512 | likely_benign | 0.3067 | benign | -0.279 | Destabilizing | 0.999 | D | 0.606 | neutral | None | None | None | None | N |
| T/M | 0.1444 | likely_benign | 0.1613 | benign | 0.147 | Stabilizing | 1.0 | D | 0.624 | neutral | None | None | None | None | N |
| T/N | 0.295 | likely_benign | 0.3377 | benign | -0.671 | Destabilizing | 1.0 | D | 0.725 | prob.delet. | None | None | None | None | N |
| T/P | 0.3814 | ambiguous | 0.4908 | ambiguous | -0.41 | Destabilizing | 1.0 | D | 0.651 | neutral | N | 0.505917723 | None | None | N |
| T/Q | 0.5485 | ambiguous | 0.6001 | pathogenic | -0.955 | Destabilizing | 1.0 | D | 0.673 | neutral | None | None | None | None | N |
| T/R | 0.4759 | ambiguous | 0.5023 | ambiguous | -0.411 | Destabilizing | 1.0 | D | 0.665 | neutral | N | 0.472623006 | None | None | N |
| T/S | 0.2574 | likely_benign | 0.2948 | benign | -0.902 | Destabilizing | 0.999 | D | 0.592 | neutral | N | 0.498951679 | None | None | N |
| T/V | 0.2896 | likely_benign | 0.3519 | ambiguous | -0.41 | Destabilizing | 0.999 | D | 0.615 | neutral | None | None | None | None | N |
| T/W | 0.9316 | likely_pathogenic | 0.9458 | pathogenic | -0.862 | Destabilizing | 1.0 | D | 0.67 | neutral | None | None | None | None | N |
| T/Y | 0.7316 | likely_pathogenic | 0.7822 | pathogenic | -0.641 | Destabilizing | 1.0 | D | 0.697 | prob.neutral | 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.