Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 22227 | 66904;66905;66906 | chr2:178581589;178581588;178581587 | chr2:179446316;179446315;179446314 |
| N2AB | 20586 | 61981;61982;61983 | chr2:178581589;178581588;178581587 | chr2:179446316;179446315;179446314 |
| N2A | 19659 | 59200;59201;59202 | chr2:178581589;178581588;178581587 | chr2:179446316;179446315;179446314 |
| N2B | 13162 | 39709;39710;39711 | chr2:178581589;178581588;178581587 | chr2:179446316;179446315;179446314 |
| Novex-1 | 13287 | 40084;40085;40086 | chr2:178581589;178581588;178581587 | chr2:179446316;179446315;179446314 |
| Novex-2 | 13354 | 40285;40286;40287 | chr2:178581589;178581588;178581587 | chr2:179446316;179446315;179446314 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/P | rs1403005823  |
None | 0.028 | N | 0.403 | 0.228 | 0.270001397563 | 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 |
| Q/P | rs1403005823 |
None | 0.028 | N | 0.403 | 0.228 | 0.270001397563 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 2.41289E-05 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| Q/R | rs1403005823 |
None | 0.007 | N | 0.265 | 0.219 | 0.130388298395 | 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 |
| Q/R | rs1403005823 |
None | 0.007 | N | 0.265 | 0.219 | 0.130388298395 | gnomAD-4.0.0 | 6.57566E-06 | None | None | None | None | N | None | 2.41289E-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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Q/A | 0.0951 | likely_benign | 0.1027 | benign | -0.906 | Destabilizing | 0.004 | N | 0.253 | neutral | None | None | None | None | N |
| Q/C | 0.518 | ambiguous | 0.5276 | ambiguous | -0.143 | Destabilizing | 0.788 | D | 0.508 | neutral | None | None | None | None | N |
| Q/D | 0.4126 | ambiguous | 0.3703 | ambiguous | -0.825 | Destabilizing | None | N | 0.074 | neutral | None | None | None | None | N |
| Q/E | 0.0533 | likely_benign | 0.0491 | benign | -0.641 | Destabilizing | None | N | 0.075 | neutral | N | 0.331562402 | None | None | N |
| Q/F | 0.6557 | likely_pathogenic | 0.6738 | pathogenic | -0.292 | Destabilizing | 0.497 | N | 0.582 | neutral | None | None | None | None | N |
| Q/G | 0.2679 | likely_benign | 0.2679 | benign | -1.334 | Destabilizing | 0.008 | N | 0.335 | neutral | None | None | None | None | N |
| Q/H | 0.2987 | likely_benign | 0.2829 | benign | -0.908 | Destabilizing | 0.196 | N | 0.373 | neutral | N | 0.474768097 | None | None | N |
| Q/I | 0.2537 | likely_benign | 0.2646 | benign | 0.236 | Stabilizing | 0.085 | N | 0.6 | neutral | None | None | None | None | N |
| Q/K | 0.1015 | likely_benign | 0.1041 | benign | -0.434 | Destabilizing | 0.003 | N | 0.167 | neutral | N | 0.428416945 | None | None | N |
| Q/L | 0.0928 | likely_benign | 0.0974 | benign | 0.236 | Stabilizing | 0.014 | N | 0.428 | neutral | N | 0.469668921 | None | None | N |
| Q/M | 0.2274 | likely_benign | 0.2443 | benign | 0.594 | Stabilizing | 0.497 | N | 0.34 | neutral | None | None | None | None | N |
| Q/N | 0.274 | likely_benign | 0.2815 | benign | -1.057 | Destabilizing | 0.018 | N | 0.211 | neutral | None | None | None | None | N |
| Q/P | 0.0618 | likely_benign | 0.0615 | benign | -0.115 | Destabilizing | 0.028 | N | 0.403 | neutral | N | 0.482867505 | None | None | N |
| Q/R | 0.1353 | likely_benign | 0.1374 | benign | -0.444 | Destabilizing | 0.007 | N | 0.265 | neutral | N | 0.420741611 | None | None | N |
| Q/S | 0.1405 | likely_benign | 0.1564 | benign | -1.296 | Destabilizing | 0.004 | N | 0.155 | neutral | None | None | None | None | N |
| Q/T | 0.1529 | likely_benign | 0.1514 | benign | -0.907 | Destabilizing | 0.018 | N | 0.374 | neutral | None | None | None | None | N |
| Q/V | 0.1427 | likely_benign | 0.1478 | benign | -0.115 | Destabilizing | 0.018 | N | 0.424 | neutral | None | None | None | None | N |
| Q/W | 0.6626 | likely_pathogenic | 0.6626 | pathogenic | -0.166 | Destabilizing | 0.788 | D | 0.503 | neutral | None | None | None | None | N |
| Q/Y | 0.5223 | ambiguous | 0.5307 | ambiguous | 0.073 | Stabilizing | 0.22 | N | 0.517 | 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.