Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 14206 | 42841;42842;42843 | chr2:178633883;178633882;178633881 | chr2:179498610;179498609;179498608 |
| N2AB | 12565 | 37918;37919;37920 | chr2:178633883;178633882;178633881 | chr2:179498610;179498609;179498608 |
| N2A | 11638 | 35137;35138;35139 | chr2:178633883;178633882;178633881 | chr2:179498610;179498609;179498608 |
| N2B | 5141 | 15646;15647;15648 | chr2:178633883;178633882;178633881 | chr2:179498610;179498609;179498608 |
| Novex-1 | 5266 | 16021;16022;16023 | chr2:178633883;178633882;178633881 | chr2:179498610;179498609;179498608 |
| Novex-2 | 5333 | 16222;16223;16224 | chr2:178633883;178633882;178633881 | chr2:179498610;179498609;179498608 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/H | None | None | 1.0 | D | 0.613 | 0.455 | 0.28722502521 | gnomAD-4.0.0 | 1.20032E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 1.3125E-06 | 0 | 0 |
| D/N | rs1418013035  |
0.09 | 1.0 | N | 0.593 | 0.392 | 0.304435445954 | gnomAD-2.1.1 | 3.19E-05 | None | None | None | None | N | None | 1.14732E-04 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| D/N | rs1418013035 |
0.09 | 1.0 | N | 0.593 | 0.392 | 0.304435445954 | gnomAD-3.1.2 | 6.58E-06 | None | None | None | None | N | None | 2.41E-05 | 0 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| D/N | rs1418013035 |
0.09 | 1.0 | N | 0.593 | 0.392 | 0.304435445954 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 2.41324E-05 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| D/A | 0.4273 | ambiguous | 0.3938 | ambiguous | 0.027 | Stabilizing | 1.0 | D | 0.668 | neutral | N | 0.430322883 | None | None | N |
| D/C | 0.9279 | likely_pathogenic | 0.9066 | pathogenic | 0.086 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| D/E | 0.3855 | ambiguous | 0.3751 | ambiguous | -0.22 | Destabilizing | 1.0 | D | 0.431 | neutral | N | 0.441316338 | None | None | N |
| D/F | 0.9 | likely_pathogenic | 0.8921 | pathogenic | -0.135 | Destabilizing | 1.0 | D | 0.696 | prob.neutral | None | None | None | None | N |
| D/G | 0.3744 | ambiguous | 0.3394 | benign | -0.085 | Destabilizing | 1.0 | D | 0.615 | neutral | N | 0.473551019 | None | None | N |
| D/H | 0.6308 | likely_pathogenic | 0.636 | pathogenic | 0.339 | Stabilizing | 1.0 | D | 0.613 | neutral | D | 0.534378997 | None | None | N |
| D/I | 0.8452 | likely_pathogenic | 0.814 | pathogenic | 0.25 | Stabilizing | 1.0 | D | 0.704 | prob.neutral | None | None | None | None | N |
| D/K | 0.6836 | likely_pathogenic | 0.7253 | pathogenic | 0.516 | Stabilizing | 1.0 | D | 0.648 | neutral | None | None | None | None | N |
| D/L | 0.7831 | likely_pathogenic | 0.744 | pathogenic | 0.25 | Stabilizing | 1.0 | D | 0.721 | prob.delet. | None | None | None | None | N |
| D/M | 0.9212 | likely_pathogenic | 0.9069 | pathogenic | 0.184 | Stabilizing | 1.0 | D | 0.702 | prob.neutral | None | None | None | None | N |
| D/N | 0.2594 | likely_benign | 0.2391 | benign | 0.376 | Stabilizing | 1.0 | D | 0.593 | neutral | N | 0.51039377 | None | None | N |
| D/P | 0.9396 | likely_pathogenic | 0.9187 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.642 | neutral | None | None | None | None | N |
| D/Q | 0.6819 | likely_pathogenic | 0.7027 | pathogenic | 0.365 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| D/R | 0.7282 | likely_pathogenic | 0.7492 | pathogenic | 0.662 | Stabilizing | 1.0 | D | 0.705 | prob.neutral | None | None | None | None | N |
| D/S | 0.3209 | likely_benign | 0.2939 | benign | 0.263 | Stabilizing | 1.0 | D | 0.621 | neutral | None | None | None | None | N |
| D/T | 0.604 | likely_pathogenic | 0.5849 | pathogenic | 0.351 | Stabilizing | 1.0 | D | 0.649 | neutral | None | None | None | None | N |
| D/V | 0.6586 | likely_pathogenic | 0.5878 | pathogenic | 0.195 | Stabilizing | 1.0 | D | 0.723 | prob.delet. | D | 0.558978514 | None | None | N |
| D/W | 0.9705 | likely_pathogenic | 0.9692 | pathogenic | -0.114 | Destabilizing | 1.0 | D | 0.707 | prob.neutral | None | None | None | None | N |
| D/Y | 0.5625 | ambiguous | 0.5423 | ambiguous | 0.087 | Stabilizing | 1.0 | D | 0.689 | prob.neutral | D | 0.59865308 | 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.