Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 3735 | 11428;11429;11430 | chr2:178756273;178756272;178756271 | chr2:179621000;179620999;179620998 |
| N2AB | None | None | chr2:None | chr2:None |
| N2A | None | None | chr2:None | chr2:None |
| N2B | None | None | chr2:None | chr2:None |
| Novex-1 | None | None | chr2:None | chr2:None |
| Novex-2 | 3564 | 10915;10916;10917 | chr2:178756273;178756272;178756271 | chr2:179621000;179620999;179620998 |
| 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/D | None | None | None | None | None | 0.057 | None | gnomAD-4.0.0 | 1.59136E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 3.02389E-05 |
| H/Q | rs1483940165  |
-0.289 | None | None | None | 0.083 | None | gnomAD-2.1.1 | 3.18E-05 | None | None | None | None | N | None | 0 | 0 | None | 0 | 6.41026E-04 | None | 0 | None | 0 | 0 | 0 |
| H/Q | rs1483940165 |
-0.289 | None | None | None | 0.083 | None | gnomAD-3.1.2 | 6.57E-06 | None | None | None | None | N | None | 0 | 0 | 0 | 0 | 1.9216E-04 | None | 0 | 0 | 0 | 0 | 0 |
| H/Q | rs1483940165 |
-0.289 | None | None | None | 0.083 | None | gnomAD-4.0.0 | 6.56953E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 1.9216E-04 | 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 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| H/A | 0.257 | likely_benign | None | None | -0.598 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/C | 0.1131 | likely_benign | None | None | 0.089 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/D | 0.2035 | likely_benign | None | None | -0.447 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/E | 0.2072 | likely_benign | None | None | -0.388 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/F | 0.3109 | likely_benign | None | None | 0.091 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/G | 0.2305 | likely_benign | None | None | -0.916 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/I | 0.2965 | likely_benign | None | None | 0.252 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/K | 0.1422 | likely_benign | None | None | -0.561 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/L | 0.1239 | likely_benign | None | None | 0.252 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/M | 0.4676 | ambiguous | None | None | 0.189 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/N | 0.1144 | likely_benign | None | None | -0.426 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/P | 0.4224 | ambiguous | None | None | -0.01 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/Q | 0.1141 | likely_benign | None | None | -0.263 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/R | 0.0593 | likely_benign | None | None | -0.924 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/S | 0.1765 | likely_benign | None | None | -0.467 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/T | 0.2103 | likely_benign | None | None | -0.319 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/V | 0.2428 | likely_benign | None | None | -0.01 | Destabilizing | None | None | None | None | None | None | None | None | N |
| H/W | 0.2796 | likely_benign | None | None | 0.187 | Stabilizing | None | None | None | None | None | None | None | None | N |
| H/Y | 0.0994 | likely_benign | None | None | 0.483 | Stabilizing | None | None | None | None | 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.