Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9 | 250;251;252 | chr2:178804618;178804617;178804616 | chr2:179669345;179669344;179669343 |
| N2AB | 9 | 250;251;252 | chr2:178804618;178804617;178804616 | chr2:179669345;179669344;179669343 |
| N2A | 9 | 250;251;252 | chr2:178804618;178804617;178804616 | chr2:179669345;179669344;179669343 |
| N2B | 9 | 250;251;252 | chr2:178804618;178804617;178804616 | chr2:179669345;179669344;179669343 |
| Novex-1 | 9 | 250;251;252 | chr2:178804618;178804617;178804616 | chr2:179669345;179669344;179669343 |
| Novex-2 | 9 | 250;251;252 | chr2:178804618;178804617;178804616 | chr2:179669345;179669344;179669343 |
| Novex-3 | 9 | 250;251;252 | chr2:178804618;178804617;178804616 | chr2:179669345;179669344;179669343 |
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/K | rs146123323  |
None | None | N | 0.177 | 0.132 | 0.137902524267 | gnomAD-3.1.2 | 6.57E-06 | None | None | None | -0.538(TCAP) | N | None | 0 | 6.54E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/K | rs146123323 |
None | None | N | 0.177 | 0.132 | 0.137902524267 | gnomAD-4.0.0 | 6.57134E-06 | None | None | None | -0.538(TCAP) | N | None | 0 | 6.54279E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs146123323 |
0.106 | 0.552 | D | 0.297 | 0.14 | None | gnomAD-2.1.1 | 3.19E-05 | None | None | None | 0.352(TCAP) | N | None | 1.84729E-04 | 5.78E-05 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 1.63506E-04 |
| T/M | rs146123323 |
0.106 | 0.552 | D | 0.297 | 0.14 | None | gnomAD-3.1.2 | 2.63E-05 | None | None | None | 0.352(TCAP) | N | None | 9.65E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| T/M | rs146123323 |
0.106 | 0.552 | D | 0.297 | 0.14 | None | gnomAD-4.0.0 | 1.05341E-05 | None | None | None | 0.352(TCAP) | N | None | 9.3423E-05 | 5.00017E-05 | None | 0 | 0 | None | 1.56191E-05 | 0 | 3.39007E-06 | 0 | 3.20195E-05 |
| T/S | rs1298028827 |
-0.703 | None | N | 0.123 | 0.08 | 0.199424873507 | gnomAD-2.1.1 | 7.97E-06 | None | None | None | -0.478(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 1.76E-05 | 0 |
| T/S | rs1298028827 |
-0.703 | None | N | 0.123 | 0.08 | 0.199424873507 | gnomAD-4.0.0 | 2.73662E-06 | None | None | None | -0.478(TCAP) | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 3.59747E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| T/A | 0.111 | likely_benign | 0.0992 | benign | -0.73 | Destabilizing | 0.001 | N | 0.272 | neutral | D | 0.526316699 | None | -0.039(TCAP) | N |
| T/C | 0.7183 | likely_pathogenic | 0.6462 | pathogenic | -0.335 | Destabilizing | 0.835 | D | 0.31 | neutral | None | None | None | -0.161(TCAP) | N |
| T/D | 0.4913 | ambiguous | 0.3673 | ambiguous | -0.2 | Destabilizing | 0.017 | N | 0.354 | neutral | None | None | None | -0.358(TCAP) | N |
| T/E | 0.215 | likely_benign | 0.1631 | benign | -0.207 | Destabilizing | 0.029 | N | 0.319 | neutral | None | None | None | -0.439(TCAP) | N |
| T/F | 0.3895 | ambiguous | 0.2808 | benign | -0.806 | Destabilizing | 0.437 | N | 0.333 | neutral | None | None | None | -0.041(TCAP) | N |
| T/G | 0.3525 | ambiguous | 0.2767 | benign | -0.987 | Destabilizing | 0.069 | N | 0.303 | neutral | None | None | None | -0.032(TCAP) | N |
| T/H | 0.2363 | likely_benign | 0.1905 | benign | -1.254 | Destabilizing | 0.69 | D | 0.297 | neutral | None | None | None | 0.465(TCAP) | N |
| T/I | 0.156 | likely_benign | 0.1217 | benign | -0.14 | Destabilizing | None | N | 0.149 | neutral | None | None | None | -0.102(TCAP) | N |
| T/K | 0.0765 | likely_benign | 0.0699 | benign | -0.746 | Destabilizing | None | N | 0.177 | neutral | N | 0.518142362 | None | -0.538(TCAP) | N |
| T/L | 0.1097 | likely_benign | 0.0904 | benign | -0.14 | Destabilizing | 0.017 | N | 0.285 | neutral | None | None | None | -0.102(TCAP) | N |
| T/M | 0.1146 | likely_benign | 0.0957 | benign | 0.148 | Stabilizing | 0.552 | D | 0.297 | neutral | D | 0.526264118 | None | 0.352(TCAP) | N |
| T/N | 0.1857 | likely_benign | 0.1481 | benign | -0.622 | Destabilizing | 0.009 | N | 0.288 | neutral | None | None | None | -0.65(TCAP) | N |
| T/P | 0.2884 | likely_benign | 0.2187 | benign | -0.304 | Destabilizing | 0.087 | N | 0.36 | neutral | D | 0.619298786 | None | -0.074(TCAP) | N |
| T/Q | 0.1117 | likely_benign | 0.0961 | benign | -0.766 | Destabilizing | 0.001 | N | 0.174 | neutral | None | None | None | -0.518(TCAP) | N |
| T/R | 0.0965 | likely_benign | 0.0818 | benign | -0.495 | Destabilizing | 0.175 | N | 0.341 | neutral | N | 0.513363547 | None | -0.459(TCAP) | N |
| T/S | 0.139 | likely_benign | 0.1162 | benign | -0.874 | Destabilizing | None | N | 0.123 | neutral | N | 0.47221492 | None | -0.478(TCAP) | N |
| T/V | 0.1489 | likely_benign | 0.1242 | benign | -0.304 | Destabilizing | 0.012 | N | 0.225 | neutral | None | None | None | -0.074(TCAP) | N |
| T/W | 0.6638 | likely_pathogenic | 0.526 | ambiguous | -0.778 | Destabilizing | 0.948 | D | 0.375 | neutral | None | None | None | -0.05(TCAP) | N |
| T/Y | 0.4166 | ambiguous | 0.3072 | benign | -0.553 | Destabilizing | 0.612 | D | 0.321 | neutral | None | None | None | 0.132(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.