Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 35480 | 106663;106664;106665 | chr2:178530053;178530052;178530051 | chr2:179394780;179394779;179394778 |
| N2AB | 33839 | 101740;101741;101742 | chr2:178530053;178530052;178530051 | chr2:179394780;179394779;179394778 |
| N2A | 32912 | 98959;98960;98961 | chr2:178530053;178530052;178530051 | chr2:179394780;179394779;179394778 |
| N2B | 26415 | 79468;79469;79470 | chr2:178530053;178530052;178530051 | chr2:179394780;179394779;179394778 |
| Novex-1 | 26540 | 79843;79844;79845 | chr2:178530053;178530052;178530051 | chr2:179394780;179394779;179394778 |
| Novex-2 | 26607 | 80044;80045;80046 | chr2:178530053;178530052;178530051 | chr2:179394780;179394779;179394778 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | rs1171675957  |
-0.908 | 0.005 | N | 0.389 | 0.184 | 0.236278675362 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 2.95E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/P | None | None | None | N | 0.154 | 0.107 | 0.0762999501168 | gnomAD-4.0.0 | 1.37032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 8.99876E-07 | 1.16981E-05 | 0 |
| H/R | rs766337455 |
None | None | N | 0.072 | 0.088 | 0.0666544352282 | gnomAD-3.1.2 | 3.94E-05 | None | None | None | None | N | None | 7.24E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 4.41E-05 | 0 | 0 |
| H/R | rs766337455 |
None | None | N | 0.072 | 0.088 | 0.0666544352282 | gnomAD-4.0.0 | 1.61316E-05 | None | None | None | None | N | None | 6.68056E-05 | 1.67949E-05 | None | 0 | 0 | None | 0 | 0 | 1.44154E-05 | 3.32167E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.129 | likely_benign | 0.1298 | benign | -0.589 | Destabilizing | 0.002 | N | 0.309 | neutral | None | None | None | None | N |
| H/C | 0.1075 | likely_benign | 0.108 | benign | 0.214 | Stabilizing | 0.278 | N | 0.458 | neutral | None | None | None | None | N |
| H/D | 0.1291 | likely_benign | 0.1224 | benign | -0.268 | Destabilizing | 0.005 | N | 0.389 | neutral | N | 0.431527113 | None | None | N |
| H/E | 0.1255 | likely_benign | 0.1251 | benign | -0.176 | Destabilizing | 0.002 | N | 0.21 | neutral | None | None | None | None | N |
| H/F | 0.1826 | likely_benign | 0.1746 | benign | 0.53 | Stabilizing | 0.004 | N | 0.399 | neutral | None | None | None | None | N |
| H/G | 0.1261 | likely_benign | 0.1374 | benign | -0.957 | Destabilizing | 0.007 | N | 0.379 | neutral | None | None | None | None | N |
| H/I | 0.1475 | likely_benign | 0.1299 | benign | 0.418 | Stabilizing | 0.004 | N | 0.444 | neutral | None | None | None | None | N |
| H/K | 0.1151 | likely_benign | 0.122 | benign | -0.437 | Destabilizing | 0.002 | N | 0.315 | neutral | None | None | None | None | N |
| H/L | 0.0612 | likely_benign | 0.0574 | benign | 0.418 | Stabilizing | None | N | 0.176 | neutral | N | 0.438146441 | None | None | N |
| H/M | 0.2394 | likely_benign | 0.2306 | benign | 0.257 | Stabilizing | 0.03 | N | 0.498 | neutral | None | None | None | None | N |
| H/N | 0.0742 | likely_benign | 0.0698 | benign | -0.405 | Destabilizing | 0.005 | N | 0.272 | neutral | N | 0.433124623 | None | None | N |
| H/P | 0.1149 | likely_benign | 0.1101 | benign | 0.105 | Stabilizing | None | N | 0.154 | neutral | N | 0.446304564 | None | None | N |
| H/Q | 0.0736 | likely_benign | 0.0797 | benign | -0.162 | Destabilizing | None | N | 0.092 | neutral | N | 0.434970063 | None | None | N |
| H/R | 0.0603 | likely_benign | 0.0658 | benign | -1.014 | Destabilizing | None | N | 0.072 | neutral | N | 0.417251094 | None | None | N |
| H/S | 0.1052 | likely_benign | 0.1071 | benign | -0.445 | Destabilizing | 0.004 | N | 0.373 | neutral | None | None | None | None | N |
| H/T | 0.1289 | likely_benign | 0.1221 | benign | -0.251 | Destabilizing | 0.007 | N | 0.355 | neutral | None | None | None | None | N |
| H/V | 0.1324 | likely_benign | 0.1221 | benign | 0.105 | Stabilizing | 0.002 | N | 0.397 | neutral | None | None | None | None | N |
| H/W | 0.1922 | likely_benign | 0.2108 | benign | 0.766 | Stabilizing | 0.112 | N | 0.438 | neutral | None | None | None | None | N |
| H/Y | 0.0762 | likely_benign | 0.0723 | benign | 0.914 | Stabilizing | None | N | 0.049 | neutral | N | 0.443514975 | 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.