Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 6785 | 20578;20579;20580 | chr2:178725969;178725968;178725967 | chr2:179590696;179590695;179590694 |
| N2AB | 6468 | 19627;19628;19629 | chr2:178725969;178725968;178725967 | chr2:179590696;179590695;179590694 |
| N2A | 5541 | 16846;16847;16848 | chr2:178725969;178725968;178725967 | chr2:179590696;179590695;179590694 |
| 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/L | rs201586695  |
0.196 | None | N | 0.211 | 0.127 | 0.379707525713 | gnomAD-2.1.1 | 1.22105E-04 | None | None | None | None | N | None | 0 | 2.86517E-04 | None | 0 | 0 | None | 3.3E-05 | None | 0 | 1.72617E-04 | 1.42045E-04 |
| S/L | rs201586695 |
0.196 | None | N | 0.211 | 0.127 | 0.379707525713 | gnomAD-3.1.2 | 6.58E-05 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 1.32365E-04 | 0 | 0 |
| S/L | rs201586695 |
0.196 | None | N | 0.211 | 0.127 | 0.379707525713 | 1000 genomes | 3.99361E-04 | None | None | None | None | N | None | 0 | 1.4E-03 | None | None | 0 | 1E-03 | None | None | None | 0 | None |
| S/L | rs201586695 |
0.196 | None | N | 0.211 | 0.127 | 0.379707525713 | gnomAD-4.0.0 | 7.50911E-05 | None | None | None | None | N | None | 0 | 1.8407E-04 | None | 0 | 0 | None | 1.56406E-05 | 0 | 8.65472E-05 | 3.30863E-05 | 6.4156E-05 |
| S/W | rs201586695 |
-0.85 | 0.924 | N | 0.401 | 0.341 | 0.664306284051 | gnomAD-2.1.1 | 4.05E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.93E-06 | 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 | 0.0667 | likely_benign | 0.0641 | benign | -0.634 | Destabilizing | None | N | 0.094 | neutral | N | 0.456310914 | None | None | N |
| S/C | 0.1488 | likely_benign | 0.1488 | benign | -0.278 | Destabilizing | 0.864 | D | 0.293 | neutral | None | None | None | None | N |
| S/D | 0.382 | ambiguous | 0.3501 | ambiguous | 0.648 | Stabilizing | 0.072 | N | 0.224 | neutral | None | None | None | None | N |
| S/E | 0.3472 | ambiguous | 0.328 | benign | 0.7 | Stabilizing | 0.016 | N | 0.258 | neutral | None | None | None | None | N |
| S/F | 0.14 | likely_benign | 0.1215 | benign | -0.865 | Destabilizing | 0.12 | N | 0.367 | neutral | None | None | None | None | N |
| S/G | 0.1346 | likely_benign | 0.1301 | benign | -0.9 | Destabilizing | 0.031 | N | 0.249 | neutral | None | None | None | None | N |
| S/H | 0.2232 | likely_benign | 0.2062 | benign | -1.115 | Destabilizing | 0.356 | N | 0.301 | neutral | None | None | None | None | N |
| S/I | 0.1417 | likely_benign | 0.1175 | benign | -0.021 | Destabilizing | 0.038 | N | 0.319 | neutral | None | None | None | None | N |
| S/K | 0.36 | ambiguous | 0.3398 | benign | 0.054 | Stabilizing | 0.001 | N | 0.14 | neutral | None | None | None | None | N |
| S/L | 0.0707 | likely_benign | 0.0653 | benign | -0.021 | Destabilizing | None | N | 0.211 | neutral | N | 0.515801935 | None | None | N |
| S/M | 0.1667 | likely_benign | 0.1478 | benign | -0.072 | Destabilizing | 0.12 | N | 0.319 | neutral | None | None | None | None | N |
| S/N | 0.1662 | likely_benign | 0.1476 | benign | -0.098 | Destabilizing | 0.072 | N | 0.245 | neutral | None | None | None | None | N |
| S/P | 0.8544 | likely_pathogenic | 0.8241 | pathogenic | -0.192 | Destabilizing | 0.106 | N | 0.346 | neutral | N | 0.51047299 | None | None | N |
| S/Q | 0.2965 | likely_benign | 0.2821 | benign | -0.064 | Destabilizing | 0.001 | N | 0.156 | neutral | None | None | None | None | N |
| S/R | 0.2883 | likely_benign | 0.2735 | benign | -0.042 | Destabilizing | 0.038 | N | 0.271 | neutral | None | None | None | None | N |
| S/T | 0.0752 | likely_benign | 0.0687 | benign | -0.167 | Destabilizing | 0.001 | N | 0.103 | neutral | N | 0.454366687 | None | None | N |
| S/V | 0.1454 | likely_benign | 0.1218 | benign | -0.192 | Destabilizing | 0.016 | N | 0.301 | neutral | None | None | None | None | N |
| S/W | 0.24 | likely_benign | 0.2217 | benign | -0.876 | Destabilizing | 0.924 | D | 0.401 | neutral | N | 0.495749323 | None | None | N |
| S/Y | 0.1388 | likely_benign | 0.125 | benign | -0.523 | Destabilizing | 0.356 | N | 0.353 | neutral | None | None | 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.