Isoform Positions
| Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
|---|---|---|---|---|
| IC | 33232 | 99919;99920;99921 | chr2:178537513;178537512;178537511 | chr2:179402240;179402239;179402238 |
| N2AB | 31591 | 94996;94997;94998 | chr2:178537513;178537512;178537511 | chr2:179402240;179402239;179402238 |
| N2A | 30664 | 92215;92216;92217 | chr2:178537513;178537512;178537511 | chr2:179402240;179402239;179402238 |
| N2B | 24167 | 72724;72725;72726 | chr2:178537513;178537512;178537511 | chr2:179402240;179402239;179402238 |
| Novex-1 | 24292 | 73099;73100;73101 | chr2:178537513;178537512;178537511 | chr2:179402240;179402239;179402238 |
| Novex-2 | 24359 | 73300;73301;73302 | chr2:178537513;178537512;178537511 | chr2:179402240;179402239;179402238 |
| 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/Q | rs745799786  |
-0.234 | 0.164 | N | 0.489 | 0.076 | 0.0611884634855 | gnomAD-2.1.1 | 4.02E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | None | 0 | 8.86E-06 | 0 |
| H/Q | rs745799786 |
-0.234 | 0.164 | N | 0.489 | 0.076 | 0.0611884634855 | gnomAD-4.0.0 | 2.05268E-06 | None | None | None | None | N | None | 0 | 0 | None | 0 | 0 | None | 0 | 0 | 2.69847E-06 | 0 | 0 |
| H/R | rs772035843 |
-0.745 | 0.001 | N | 0.189 | 0.106 | 0.0666544352282 | gnomAD-2.1.1 | 1.21E-05 | None | None | None | None | N | None | 0 | 8.7E-05 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
| H/R | rs772035843 |
-0.745 | 0.001 | N | 0.189 | 0.106 | 0.0666544352282 | gnomAD-3.1.2 | 1.97E-05 | None | None | None | None | N | None | 0 | 1.96412E-04 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
| H/R | rs772035843 |
-0.745 | 0.001 | N | 0.189 | 0.106 | 0.0666544352282 | gnomAD-4.0.0 | 8.96822E-06 | None | None | None | None | N | None | 0 | 1.01698E-04 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 2.84463E-05 |
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 | 0.6119 | likely_pathogenic | 0.6412 | pathogenic | -1.024 | Destabilizing | 0.206 | N | 0.45 | neutral | None | None | None | None | N |
| H/C | 0.2409 | likely_benign | 0.2823 | benign | -0.253 | Destabilizing | 0.939 | D | 0.633 | neutral | None | None | None | None | N |
| H/D | 0.5889 | likely_pathogenic | 0.5856 | pathogenic | -0.312 | Destabilizing | 0.124 | N | 0.553 | neutral | N | 0.501095402 | None | None | N |
| H/E | 0.6024 | likely_pathogenic | 0.6132 | pathogenic | -0.197 | Destabilizing | 0.115 | N | 0.388 | neutral | None | None | None | None | N |
| H/F | 0.432 | ambiguous | 0.4855 | ambiguous | 0.174 | Stabilizing | 0.149 | N | 0.471 | neutral | None | None | None | None | N |
| H/G | 0.7323 | likely_pathogenic | 0.7534 | pathogenic | -1.398 | Destabilizing | 0.385 | N | 0.521 | neutral | None | None | None | None | N |
| H/I | 0.5824 | likely_pathogenic | 0.5989 | pathogenic | 0.015 | Stabilizing | 0.467 | N | 0.635 | neutral | None | None | None | None | N |
| H/K | 0.3934 | ambiguous | 0.408 | ambiguous | -0.566 | Destabilizing | 0.111 | N | 0.469 | neutral | None | None | None | None | N |
| H/L | 0.2255 | likely_benign | 0.2425 | benign | 0.015 | Stabilizing | 0.086 | N | 0.529 | neutral | N | 0.455995043 | None | None | N |
| H/M | 0.7356 | likely_pathogenic | 0.7553 | pathogenic | -0.158 | Destabilizing | 0.64 | D | 0.597 | neutral | None | None | None | None | N |
| H/N | 0.2733 | likely_benign | 0.266 | benign | -0.705 | Destabilizing | 0.124 | N | 0.417 | neutral | N | 0.482240282 | None | None | N |
| H/P | 0.8265 | likely_pathogenic | 0.8331 | pathogenic | -0.312 | Destabilizing | 0.503 | D | 0.617 | neutral | N | 0.501095402 | None | None | N |
| H/Q | 0.2976 | likely_benign | 0.3149 | benign | -0.475 | Destabilizing | 0.164 | N | 0.489 | neutral | N | 0.481893565 | None | None | N |
| H/R | 0.1414 | likely_benign | 0.1597 | benign | -0.84 | Destabilizing | 0.001 | N | 0.189 | neutral | N | 0.406046225 | None | None | N |
| H/S | 0.4996 | ambiguous | 0.4948 | ambiguous | -0.926 | Destabilizing | 0.385 | N | 0.479 | neutral | None | None | None | None | N |
| H/T | 0.6699 | likely_pathogenic | 0.6781 | pathogenic | -0.701 | Destabilizing | 0.158 | N | 0.577 | neutral | None | None | None | None | N |
| H/V | 0.5302 | ambiguous | 0.5486 | ambiguous | -0.312 | Destabilizing | 0.206 | N | 0.551 | neutral | None | None | None | None | N |
| H/W | 0.4724 | ambiguous | 0.5019 | ambiguous | 0.58 | Stabilizing | 0.869 | D | 0.597 | neutral | None | None | None | None | N |
| H/Y | 0.1051 | likely_benign | 0.1175 | benign | 0.673 | Stabilizing | None | N | 0.101 | neutral | N | 0.463134446 | 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.