Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 8762 | 26509;26510;26511 | chr2:178714490;178714489;178714488 | chr2:179579217;179579216;179579215 |
| N2AB | 8445 | 25558;25559;25560 | chr2:178714490;178714489;178714488 | chr2:179579217;179579216;179579215 |
| N2A | 7518 | 22777;22778;22779 | chr2:178714490;178714489;178714488 | chr2:179579217;179579216;179579215 |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | None | None | chr2:None | chr2:None |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/T | rs1336984327  |
-0.468 | 0.001 | N | 0.145 | 0.041 | 0.170165803431 | gnomAD-2.1.1 | 4.03E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.92E-06 | 0 |
| A/T | rs1336984327 |
-0.468 | 0.001 | N | 0.145 | 0.041 | 0.170165803431 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | I | None | 0 | 0 | 0 | 0 | 0 | None | 0 | 0 | 2.94E-05 | 0 | 0 |
| A/T | rs1336984327 |
-0.468 | 0.001 | N | 0.145 | 0.041 | 0.170165803431 | gnomAD-4.0.0 | 9.29769E-06 | None | None | None | None | I | None | 0 | 0 | None | 6.75813E-05 | 0 | None | 0 | 0 | 1.01726E-05 | 0 | 1.60159E-05 |
| A/V | None | None | 0.148 | N | 0.311 | 0.289 | 0.41921206133 | gnomAD-4.0.0 | 1.59196E-06 | None | None | None | None | I | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.85922E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| A/C | 0.3644 | ambiguous | 0.4104 | ambiguous | -0.698 | Destabilizing | 0.877 | D | 0.449 | neutral | None | None | None | None | I |
| A/D | 0.1284 | likely_benign | 0.1526 | benign | -0.867 | Destabilizing | 0.199 | N | 0.587 | neutral | N | 0.432740621 | None | None | I |
| A/E | 0.1334 | likely_benign | 0.1522 | benign | -1.015 | Destabilizing | 0.315 | N | 0.456 | neutral | None | None | None | None | I |
| A/F | 0.1601 | likely_benign | 0.1899 | benign | -0.966 | Destabilizing | 0.898 | D | 0.627 | neutral | None | None | None | None | I |
| A/G | 0.1047 | likely_benign | 0.1161 | benign | -0.482 | Destabilizing | 0.005 | N | 0.361 | neutral | N | 0.492733902 | None | None | I |
| A/H | 0.2476 | likely_benign | 0.2807 | benign | -0.562 | Destabilizing | 0.964 | D | 0.602 | neutral | None | None | None | None | I |
| A/I | 0.1227 | likely_benign | 0.1385 | benign | -0.394 | Destabilizing | 0.381 | N | 0.505 | neutral | None | None | None | None | I |
| A/K | 0.2001 | likely_benign | 0.2333 | benign | -0.911 | Destabilizing | 0.552 | D | 0.473 | neutral | None | None | None | None | I |
| A/L | 0.0998 | likely_benign | 0.11 | benign | -0.394 | Destabilizing | 0.203 | N | 0.455 | neutral | None | None | None | None | I |
| A/M | 0.1212 | likely_benign | 0.1367 | benign | -0.397 | Destabilizing | 0.898 | D | 0.493 | neutral | None | None | None | None | I |
| A/N | 0.1335 | likely_benign | 0.151 | benign | -0.474 | Destabilizing | 0.037 | N | 0.573 | neutral | None | None | None | None | I |
| A/P | 0.1165 | likely_benign | 0.1164 | benign | -0.364 | Destabilizing | 0.002 | N | 0.271 | neutral | N | 0.496253382 | None | None | I |
| A/Q | 0.1844 | likely_benign | 0.2074 | benign | -0.783 | Destabilizing | 0.898 | D | 0.507 | neutral | None | None | None | None | I |
| A/R | 0.1778 | likely_benign | 0.2125 | benign | -0.377 | Destabilizing | 0.812 | D | 0.488 | neutral | None | None | None | None | I |
| A/S | 0.0727 | likely_benign | 0.0753 | benign | -0.627 | Destabilizing | None | N | 0.141 | neutral | N | 0.377252698 | None | None | I |
| A/T | 0.0659 | likely_benign | 0.0681 | benign | -0.707 | Destabilizing | 0.001 | N | 0.145 | neutral | N | 0.425294574 | None | None | I |
| A/V | 0.08 | likely_benign | 0.0868 | benign | -0.364 | Destabilizing | 0.148 | N | 0.311 | neutral | N | 0.461023301 | None | None | I |
| A/W | 0.4306 | ambiguous | 0.5026 | ambiguous | -1.127 | Destabilizing | 0.99 | D | 0.645 | neutral | None | None | None | None | I |
| A/Y | 0.2476 | likely_benign | 0.2878 | benign | -0.793 | Destabilizing | 0.964 | D | 0.621 | neutral | None | None | None | None | I |
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.