Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 167 | 724;725;726 | chr2:178800479;178800478;178800477 | chr2:179665206;179665205;179665204 |
| N2AB | 167 | 724;725;726 | chr2:178800479;178800478;178800477 | chr2:179665206;179665205;179665204 |
| N2A | 167 | 724;725;726 | chr2:178800479;178800478;178800477 | chr2:179665206;179665205;179665204 |
| N2B | 167 | 724;725;726 | chr2:178800479;178800478;178800477 | chr2:179665206;179665205;179665204 |
| Novex-1 | 167 | 724;725;726 | chr2:178800479;178800478;178800477 | chr2:179665206;179665205;179665204 |
| Novex-2 | 167 | 724;725;726 | chr2:178800479;178800478;178800477 | chr2:179665206;179665205;179665204 |
| Novex-3 | 167 | 724;725;726 | chr2:178800479;178800478;178800477 | chr2:179665206;179665205;179665204 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/F | rs1331857304  |
-1.147 | 0.003 | N | 0.149 | 0.259 | 0.285698343383 | gnomAD-2.1.1 | 3.98E-06 | None | None | None | -0.056(TCAP) | N | None | 6.15E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/F | rs1331857304 |
-1.147 | 0.003 | N | 0.149 | 0.259 | 0.285698343383 | gnomAD-3.1.2 | 1.31E-05 | None | None | None | -0.056(TCAP) | N | None | 4.83E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/F | rs1331857304 |
-1.147 | 0.003 | N | 0.149 | 0.259 | 0.285698343383 | gnomAD-4.0.0 | 3.84167E-06 | None | None | None | -0.056(TCAP) | N | None | 5.0734E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Y/H | rs1226873128 |
-1.343 | 0.991 | N | 0.457 | 0.471 | 0.480274617672 | gnomAD-2.1.1 | 1.59E-05 | None | None | None | -0.095(TCAP) | N | None | 0 | 1.15634E-04 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| Y/H | rs1226873128 |
-1.343 | 0.991 | N | 0.457 | 0.471 | 0.480274617672 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.095(TCAP) | N | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 4.78469E-04 |
| Y/H | rs1226873128 |
-1.343 | 0.991 | N | 0.457 | 0.471 | 0.480274617672 | gnomAD-4.0.0 | 1.30108E-05 | None | None | None | -0.095(TCAP) | N | None | 0 | 6.66622E-05 | None | 0 | 0 | None | 0 | 0 | 1.27117E-05 | 0 | 3.20082E-05 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Y/A | 0.8725 | likely_pathogenic | 0.9289 | pathogenic | -1.685 | Destabilizing | 0.977 | D | 0.494 | neutral | None | None | None | -0.619(TCAP) | N |
| Y/C | 0.6398 | likely_pathogenic | 0.7187 | pathogenic | -0.245 | Destabilizing | 0.999 | D | 0.639 | neutral | N | 0.467379199 | None | -0.952(TCAP) | N |
| Y/D | 0.834 | likely_pathogenic | 0.9069 | pathogenic | -0.167 | Destabilizing | 0.997 | D | 0.661 | neutral | N | 0.460919276 | None | -1.266(TCAP) | N |
| Y/E | 0.9394 | likely_pathogenic | 0.9678 | pathogenic | -0.145 | Destabilizing | 0.998 | D | 0.594 | neutral | None | None | None | -1.352(TCAP) | N |
| Y/F | 0.1071 | likely_benign | 0.1227 | benign | -0.858 | Destabilizing | 0.003 | N | 0.149 | neutral | N | 0.392013908 | None | -0.056(TCAP) | N |
| Y/G | 0.8779 | likely_pathogenic | 0.9309 | pathogenic | -1.951 | Destabilizing | 0.998 | D | 0.549 | neutral | None | None | None | -0.56(TCAP) | N |
| Y/H | 0.508 | ambiguous | 0.6143 | pathogenic | -0.602 | Destabilizing | 0.991 | D | 0.457 | neutral | N | 0.482950403 | None | -0.095(TCAP) | N |
| Y/I | 0.8484 | likely_pathogenic | 0.8986 | pathogenic | -0.928 | Destabilizing | 0.452 | N | 0.454 | neutral | None | None | None | -0.815(TCAP) | N |
| Y/K | 0.902 | likely_pathogenic | 0.939 | pathogenic | -0.561 | Destabilizing | 0.982 | D | 0.599 | neutral | None | None | None | -1.346(TCAP) | N |
| Y/L | 0.7418 | likely_pathogenic | 0.8205 | pathogenic | -0.928 | Destabilizing | 0.145 | N | 0.455 | neutral | None | None | None | -0.815(TCAP) | N |
| Y/M | 0.8631 | likely_pathogenic | 0.9084 | pathogenic | -0.497 | Destabilizing | 0.993 | D | 0.513 | neutral | None | None | None | -0.651(TCAP) | N |
| Y/N | 0.5745 | likely_pathogenic | 0.712 | pathogenic | -0.724 | Destabilizing | 0.997 | D | 0.616 | neutral | N | 0.435904354 | None | -1.271(TCAP) | N |
| Y/P | 0.9919 | likely_pathogenic | 0.9952 | pathogenic | -1.168 | Destabilizing | 0.998 | D | 0.673 | neutral | None | None | None | -0.746(TCAP) | N |
| Y/Q | 0.8774 | likely_pathogenic | 0.9345 | pathogenic | -0.719 | Destabilizing | 0.993 | D | 0.505 | neutral | None | None | None | -1.271(TCAP) | N |
| Y/R | 0.7833 | likely_pathogenic | 0.8572 | pathogenic | -0.122 | Destabilizing | 0.995 | D | 0.615 | neutral | None | None | None | -1.394(TCAP) | N |
| Y/S | 0.5784 | likely_pathogenic | 0.7221 | pathogenic | -1.177 | Destabilizing | 0.997 | D | 0.502 | neutral | N | 0.434063451 | None | -0.833(TCAP) | N |
| Y/T | 0.8492 | likely_pathogenic | 0.9174 | pathogenic | -1.065 | Destabilizing | 0.998 | D | 0.503 | neutral | None | None | None | -0.913(TCAP) | N |
| Y/V | 0.7665 | likely_pathogenic | 0.8357 | pathogenic | -1.168 | Destabilizing | 0.955 | D | 0.447 | neutral | None | None | None | -0.746(TCAP) | N |
| Y/W | 0.5727 | likely_pathogenic | 0.64 | pathogenic | -0.715 | Destabilizing | 0.996 | D | 0.454 | neutral | None | None | None | -0.093(TCAP) | 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.