Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 116 | 571;572;573 | chr2:178800632;178800631;178800630 | chr2:179665359;179665358;179665357 |
| N2AB | 116 | 571;572;573 | chr2:178800632;178800631;178800630 | chr2:179665359;179665358;179665357 |
| N2A | 116 | 571;572;573 | chr2:178800632;178800631;178800630 | chr2:179665359;179665358;179665357 |
| N2B | 116 | 571;572;573 | chr2:178800632;178800631;178800630 | chr2:179665359;179665358;179665357 |
| Novex-1 | 116 | 571;572;573 | chr2:178800632;178800631;178800630 | chr2:179665359;179665358;179665357 |
| Novex-2 | 116 | 571;572;573 | chr2:178800632;178800631;178800630 | chr2:179665359;179665358;179665357 |
| Novex-3 | 116 | 571;572;573 | chr2:178800632;178800631;178800630 | chr2:179665359;179665358;179665357 |
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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/T | rs569775318  |
-0.982 | 0.141 | N | 0.496 | 0.36 | 0.40017627803 | gnomAD-2.1.1 | 4.01E-06 | None | None | None | -0.028(TCAP) | N | None | 0 | 0 | None | 0 | 5.44E-05 | None | 0 | None | 0 | 0 | 0 |
| R/T | rs569775318 |
-0.982 | 0.141 | N | 0.496 | 0.36 | 0.40017627803 | gnomAD-3.1.2 | 2.63E-05 | None | None | None | -0.028(TCAP) | N | None | 0 | 0 | 0 | 0 | 7.69823E-04 | None | 0 | 0 | 0 | 0 | 0 |
| R/T | rs569775318 |
-0.982 | 0.141 | N | 0.496 | 0.36 | 0.40017627803 | 1000 genomes | 1.99681E-04 | None | None | None | -0.028(TCAP) | N | None | 0 | 0 | None | None | 1E-03 | 0 | None | None | None | 0 | None |
| R/T | rs569775318 |
-0.982 | 0.141 | N | 0.496 | 0.36 | 0.40017627803 | gnomAD-4.0.0 | 2.97707E-05 | None | None | None | -0.028(TCAP) | N | None | 0 | 0 | None | 0 | 1.04761E-03 | None | 0 | 0 | 8.4826E-07 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| R/A | 0.7634 | likely_pathogenic | 0.7982 | pathogenic | -0.029 | Destabilizing | 0.082 | N | 0.457 | neutral | None | None | None | -0.378(TCAP) | N |
| R/C | 0.6083 | likely_pathogenic | 0.6557 | pathogenic | -0.298 | Destabilizing | 0.921 | D | 0.452 | neutral | None | None | None | -0.315(TCAP) | N |
| R/D | 0.9354 | likely_pathogenic | 0.946 | pathogenic | -0.207 | Destabilizing | 0.179 | N | 0.483 | neutral | None | None | None | 0.0(TCAP) | N |
| R/E | 0.7118 | likely_pathogenic | 0.7273 | pathogenic | -0.151 | Destabilizing | 0.061 | N | 0.413 | neutral | None | None | None | -0.056(TCAP) | N |
| R/F | 0.9046 | likely_pathogenic | 0.92 | pathogenic | -0.265 | Destabilizing | 0.377 | N | 0.457 | neutral | None | None | None | -0.413(TCAP) | N |
| R/G | 0.6612 | likely_pathogenic | 0.6949 | pathogenic | -0.206 | Destabilizing | 0.141 | N | 0.506 | neutral | N | 0.499355008 | None | -0.292(TCAP) | N |
| R/H | 0.2712 | likely_benign | 0.2963 | benign | -0.604 | Destabilizing | 0.562 | D | 0.42 | neutral | None | None | None | -0.035(TCAP) | N |
| R/I | 0.7124 | likely_pathogenic | 0.7564 | pathogenic | 0.398 | Stabilizing | 0.004 | N | 0.453 | neutral | N | 0.430257364 | None | -0.635(TCAP) | N |
| R/K | 0.199 | likely_benign | 0.2216 | benign | -0.199 | Destabilizing | None | N | 0.333 | neutral | N | 0.426241668 | None | -0.006(TCAP) | N |
| R/L | 0.5563 | ambiguous | 0.6074 | pathogenic | 0.398 | Stabilizing | 0.036 | N | 0.463 | neutral | None | None | None | -0.635(TCAP) | N |
| R/M | 0.7185 | likely_pathogenic | 0.7655 | pathogenic | -0.047 | Destabilizing | 0.562 | D | 0.455 | neutral | None | None | None | -0.153(TCAP) | N |
| R/N | 0.8896 | likely_pathogenic | 0.9099 | pathogenic | -0.06 | Destabilizing | 0.179 | N | 0.434 | neutral | None | None | None | -0.105(TCAP) | N |
| R/P | 0.7313 | likely_pathogenic | 0.7845 | pathogenic | 0.275 | Stabilizing | 0.604 | D | 0.479 | neutral | None | None | None | -0.551(TCAP) | N |
| R/Q | 0.1982 | likely_benign | 0.2166 | benign | -0.136 | Destabilizing | 0.529 | D | 0.435 | neutral | None | None | None | -0.158(TCAP) | N |
| R/S | 0.8031 | likely_pathogenic | 0.8269 | pathogenic | -0.354 | Destabilizing | None | N | 0.283 | neutral | N | 0.457195664 | None | 0.036(TCAP) | N |
| R/T | 0.6192 | likely_pathogenic | 0.6654 | pathogenic | -0.174 | Destabilizing | 0.141 | N | 0.496 | neutral | N | 0.455261573 | None | -0.028(TCAP) | N |
| R/V | 0.7588 | likely_pathogenic | 0.789 | pathogenic | 0.275 | Stabilizing | 0.061 | N | 0.511 | neutral | None | None | None | -0.551(TCAP) | N |
| R/W | 0.6008 | likely_pathogenic | 0.6416 | pathogenic | -0.347 | Destabilizing | 0.981 | D | 0.519 | neutral | None | None | None | -0.204(TCAP) | N |
| R/Y | 0.8165 | likely_pathogenic | 0.8447 | pathogenic | 0.054 | Stabilizing | 0.551 | D | 0.467 | neutral | None | None | None | -0.237(TCAP) | 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.