Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 9366 | 28321;28322;28323 | chr2:178711140;178711139;178711138 | chr2:179575867;179575866;179575865 |
| N2AB | 9049 | 27370;27371;27372 | chr2:178711140;178711139;178711138 | chr2:179575867;179575866;179575865 |
| N2A | 8122 | 24589;24590;24591 | chr2:178711140;178711139;178711138 | chr2:179575867;179575866;179575865 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/C | rs1577827132  |
None | 0.002 | None | 0.193 | 0.268 | 0.27479166964 | gnomAD-4.0.0 | 1.59117E-06 | None | None | None | None | I | None | 5.65355E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs374930292 |
0.205 | None | None | 0.133 | 0.125 | 0.1749357433 | gnomAD-2.1.1 | 8.04E-06 | None | None | None | None | I | None | 1.29199E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| S/R | rs374930292 |
0.205 | None | None | 0.133 | 0.125 | 0.1749357433 | gnomAD-3.1.2 | 6.57E-05 | None | None | None | None | I | None | 2.41289E-04 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| S/R | rs374930292 |
0.205 | None | None | 0.133 | 0.125 | 0.1749357433 | gnomAD-4.0.0 | 8.67551E-06 | None | None | None | None | I | None | 1.86871E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| S/A | 0.1113 | likely_benign | 0.0966 | benign | -0.156 | Destabilizing | 0.104 | N | 0.26 | neutral | None | None | None | None | I |
| S/C | 0.221 | likely_benign | 0.1835 | benign | -0.365 | Destabilizing | 0.002 | N | 0.193 | neutral | None | None | None | None | I |
| S/D | 0.1752 | likely_benign | 0.1649 | benign | 0.023 | Stabilizing | 0.124 | N | 0.199 | neutral | None | None | None | None | I |
| S/E | 0.2637 | likely_benign | 0.2496 | benign | -0.086 | Destabilizing | 0.22 | N | 0.189 | neutral | None | None | None | None | I |
| S/F | 0.1901 | likely_benign | 0.167 | benign | -0.914 | Destabilizing | 0.667 | D | 0.397 | neutral | None | None | None | None | I |
| S/G | 0.0994 | likely_benign | 0.0886 | benign | -0.194 | Destabilizing | 0.042 | N | 0.215 | neutral | None | None | None | None | I |
| S/H | 0.1763 | likely_benign | 0.1586 | benign | -0.515 | Destabilizing | 0.002 | N | 0.177 | neutral | None | None | None | None | I |
| S/I | 0.1513 | likely_benign | 0.1243 | benign | -0.188 | Destabilizing | 0.602 | D | 0.409 | neutral | None | None | None | None | I |
| S/K | 0.3155 | likely_benign | 0.2944 | benign | -0.379 | Destabilizing | 0.055 | N | 0.207 | neutral | None | None | None | None | I |
| S/L | 0.1286 | likely_benign | 0.108 | benign | -0.188 | Destabilizing | 0.22 | N | 0.333 | neutral | None | None | None | None | I |
| S/M | 0.2094 | likely_benign | 0.1663 | benign | -0.154 | Destabilizing | 0.859 | D | 0.364 | neutral | None | None | None | None | I |
| S/N | 0.0878 | likely_benign | 0.0733 | benign | -0.152 | Destabilizing | 0.001 | N | 0.164 | neutral | None | None | None | None | I |
| S/P | 0.2833 | likely_benign | 0.3217 | benign | -0.154 | Destabilizing | 0.667 | D | 0.409 | neutral | None | None | None | None | I |
| S/Q | 0.27 | likely_benign | 0.2446 | benign | -0.368 | Destabilizing | 0.22 | N | 0.315 | neutral | None | None | None | None | I |
| S/R | 0.2588 | likely_benign | 0.2485 | benign | -0.135 | Destabilizing | None | N | 0.133 | neutral | None | None | None | None | I |
| S/T | 0.0993 | likely_benign | 0.0816 | benign | -0.263 | Destabilizing | 0.081 | N | 0.222 | neutral | None | None | None | None | I |
| S/V | 0.1924 | likely_benign | 0.1542 | benign | -0.154 | Destabilizing | 0.22 | N | 0.395 | neutral | None | None | None | None | I |
| S/W | 0.2589 | likely_benign | 0.2797 | benign | -1.011 | Destabilizing | 0.958 | D | 0.448 | neutral | None | None | None | None | I |
| S/Y | 0.1488 | likely_benign | 0.1437 | benign | -0.689 | Destabilizing | 0.497 | N | 0.415 | 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.