Isoform | Protein Position | Transcript Position | Chromosomal Position (HG38) | Chromosomal Position (HG19) |
---|---|---|---|---|
IC | 16662 | 50209;50210;50211 | chr2:178612541;178612540;178612539 | chr2:179477268;179477267;179477266 |
N2AB | 15021 | 45286;45287;45288 | chr2:178612541;178612540;178612539 | chr2:179477268;179477267;179477266 |
N2A | 14094 | 42505;42506;42507 | chr2:178612541;178612540;178612539 | chr2:179477268;179477267;179477266 |
N2B | 7597 | 23014;23015;23016 | chr2:178612541;178612540;178612539 | chr2:179477268;179477267;179477266 |
Novex-1 | 7722 | 23389;23390;23391 | chr2:178612541;178612540;178612539 | chr2:179477268;179477267;179477266 |
Novex-2 | 7789 | 23590;23591;23592 | chr2:178612541;178612540;178612539 | chr2:179477268;179477267;179477266 |
Novex-3 | None | None | chr2:None | chr2:None |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/D | rs2056522991 | None | 0.978 | N | 0.471 | 0.357 | 0.181679512989 | gnomAD-3.1.2 | 6.59E-06 | None | None | None | None | N | None | 0 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
N/D | rs2056522991 | None | 0.978 | N | 0.471 | 0.357 | 0.181679512989 | gnomAD-4.0.0 | 6.58623E-06 | None | None | None | None | N | None | 0 | 6.56254E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
N/S | rs36043230 | 0.074 | 0.63 | N | 0.166 | 0.133 | 0.128392430309 | gnomAD-2.1.1 | 4.12E-06 | None | None | None | None | N | None | 6.61E-05 | 0 | None | 0 | 0 | None | 0 | None | 0 | 0 | 0 |
N/S | rs36043230 | 0.074 | 0.63 | N | 0.166 | 0.133 | 0.128392430309 | gnomAD-3.1.2 | 1.32E-05 | None | None | None | None | N | None | 2.42E-05 | 6.56E-05 | 0 | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
N/S | rs36043230 | 0.074 | 0.63 | N | 0.166 | 0.133 | 0.128392430309 | gnomAD-4.0.0 | 1.86158E-06 | None | None | None | None | N | None | 2.67373E-05 | 1.67107E-05 | None | 0 | 0 | None | 0 | 0 | 0 | 0 | 0 |
N/T | rs36043230 | 0.272 | 0.956 | N | 0.465 | 0.328 | None | gnomAD-2.1.1 | 1.57647E-02 | None | None | None | None | N | None | 2.89551E-03 | 9.19212E-03 | None | 5.50089E-02 | 5.24E-05 | None | 7.7652E-03 | None | 1.42456E-02 | 2.1363E-02 | 1.94675E-02 |
N/T | rs36043230 | 0.272 | 0.956 | N | 0.465 | 0.328 | None | gnomAD-3.1.2 | 1.43738E-02 | None | None | None | None | N | None | 3.62336E-03 | 1.10265E-02 | 4.38597E-03 | 5.33449E-02 | 0 | None | 1.39754E-02 | 2.8481E-02 | 2.12475E-02 | 6.42354E-03 | 2.15517E-02 |
N/T | rs36043230 | 0.272 | 0.956 | N | 0.465 | 0.328 | None | 1000 genomes | 6.38978E-03 | None | None | None | None | N | None | 2.3E-03 | 8.6E-03 | None | None | 0 | 1.69E-02 | None | None | None | 6.1E-03 | None |
N/T | rs36043230 | 0.272 | 0.956 | N | 0.465 | 0.328 | None | gnomAD-4.0.0 | 1.95167E-02 | None | None | None | None | N | None | 3.33672E-03 | 1.0441E-02 | None | 5.31584E-02 | 2.24578E-05 | None | 1.42754E-02 | 3.25728E-02 | 2.1871E-02 | 8.08048E-03 | 2.20954E-02 |
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 |
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
N/A | 0.4838 | ambiguous | 0.4129 | ambiguous | -0.383 | Destabilizing | 0.967 | D | 0.455 | neutral | None | None | None | None | N |
N/C | 0.6702 | likely_pathogenic | 0.6161 | pathogenic | 0.31 | Stabilizing | 1.0 | D | 0.643 | neutral | None | None | None | None | N |
N/D | 0.3605 | ambiguous | 0.4113 | ambiguous | 0.192 | Stabilizing | 0.978 | D | 0.471 | neutral | N | 0.39539209 | None | None | N |
N/E | 0.6994 | likely_pathogenic | 0.7722 | pathogenic | 0.165 | Stabilizing | 0.983 | D | 0.51 | neutral | None | None | None | None | N |
N/F | 0.9016 | likely_pathogenic | 0.8927 | pathogenic | -0.704 | Destabilizing | 0.999 | D | 0.672 | neutral | None | None | None | None | N |
N/G | 0.4643 | ambiguous | 0.3976 | ambiguous | -0.57 | Destabilizing | 0.983 | D | 0.463 | neutral | None | None | None | None | N |
N/H | 0.2109 | likely_benign | 0.2214 | benign | -0.564 | Destabilizing | 0.999 | D | 0.572 | neutral | N | 0.485618798 | None | None | N |
N/I | 0.7759 | likely_pathogenic | 0.7298 | pathogenic | 0.022 | Stabilizing | 0.997 | D | 0.68 | prob.neutral | N | 0.520468615 | None | None | N |
N/K | 0.6962 | likely_pathogenic | 0.7805 | pathogenic | 0.12 | Stabilizing | 0.978 | D | 0.523 | neutral | N | 0.483358926 | None | None | N |
N/L | 0.6694 | likely_pathogenic | 0.6432 | pathogenic | 0.022 | Stabilizing | 0.998 | D | 0.613 | neutral | None | None | None | None | N |
N/M | 0.7861 | likely_pathogenic | 0.7351 | pathogenic | 0.36 | Stabilizing | 1.0 | D | 0.589 | neutral | None | None | None | None | N |
N/P | 0.9672 | likely_pathogenic | 0.9698 | pathogenic | -0.086 | Destabilizing | 0.998 | D | 0.646 | neutral | None | None | None | None | N |
N/Q | 0.6163 | likely_pathogenic | 0.6417 | pathogenic | -0.369 | Destabilizing | 0.998 | D | 0.598 | neutral | None | None | None | None | N |
N/R | 0.676 | likely_pathogenic | 0.7686 | pathogenic | 0.163 | Stabilizing | 0.998 | D | 0.588 | neutral | None | None | None | None | N |
N/S | 0.1114 | likely_benign | 0.0943 | benign | -0.173 | Destabilizing | 0.63 | D | 0.166 | neutral | N | 0.461722907 | None | None | N |
N/T | 0.2553 | likely_benign | 0.2119 | benign | -0.047 | Destabilizing | 0.956 | D | 0.465 | neutral | N | 0.478025906 | None | None | N |
N/V | 0.7046 | likely_pathogenic | 0.6447 | pathogenic | -0.086 | Destabilizing | 0.998 | D | 0.677 | prob.neutral | None | None | None | None | N |
N/W | 0.9635 | likely_pathogenic | 0.9676 | pathogenic | -0.653 | Destabilizing | 1.0 | D | 0.639 | neutral | None | None | None | None | N |
N/Y | 0.5712 | likely_pathogenic | 0.5805 | pathogenic | -0.395 | Destabilizing | 0.999 | D | 0.639 | neutral | N | 0.500152606 | 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.